nsv6630373

Organism: Homo sapiens

Study:nstd224 (Zarrei et al. 2023)
Variant Type:copy number variation
Method Type:SNP array
Submitted on:GRCh37

Variant Calls:42
Validation:Not tested
Clinical Assertions: No
Region Size:81,325

Publication(s):Zarrei et al. 2023

Links to Other Resources

Overlapping Genes

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 2172 SVs from 105 studies. See in: genome view

Remapped(Score: Perfect):743,890-825,214

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6630373	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	743,890	825,214
nsv6630373	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	744,005	825,329

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv18283109	deletion	OSC2436	SNP array	Probe signal intensity	6
nssv18284087	deletion	OSC2471	SNP array	Probe signal intensity	nssv18283769, nssv18285020
nssv18284673	duplication	OSC2718	SNP array	Probe signal intensity	8
nssv18286738	duplication	OSC3030	SNP array	Probe signal intensity	9
nssv18287596	duplication	OSC3003	SNP array	Probe signal intensity	7
nssv18288508	deletion	OSC3214	SNP array	Probe signal intensity	5
nssv18289122	duplication	OSC3407	SNP array	Probe signal intensity	5
nssv18289760	deletion	OSC3452	SNP array	Probe signal intensity	nssv18289192, nssv18289435
nssv18290548	duplication	OSC3770	SNP array	Probe signal intensity	13
nssv18294539	duplication	OSC4465	SNP array	Probe signal intensity	15
nssv18297797	duplication	OSC5006	SNP array	Probe signal intensity	5
nssv18298115	duplication	OSC5064	SNP array	Probe signal intensity	8
nssv18298181	duplication	OSC5107	SNP array	Probe signal intensity	8
nssv18298277	duplication	OSC4929	SNP array	Probe signal intensity	7
nssv18298360	duplication	OSC4997	SNP array	Probe signal intensity	nssv18297786, nssv18298025, nssv18298359
nssv18298690	duplication	OSC4998	SNP array	Probe signal intensity	6
nssv18298714	duplication	OSC5012	SNP array	Probe signal intensity	7
nssv18298776	duplication	OSC5050	SNP array	Probe signal intensity	nssv18298775, nssv18298090
nssv18298870	duplication	OSC5105	SNP array	Probe signal intensity	5
nssv18298911	duplication	OSC5141	SNP array	Probe signal intensity	8
nssv18298926	duplication	OSC5151	SNP array	Probe signal intensity	5
nssv18299104	duplication	OSC5290	SNP array	Probe signal intensity	nssv18299700, nssv18299699, nssv18299103
nssv18299692	duplication	OSC5285	SNP array	Probe signal intensity	nssv18299347, nssv18299981
nssv18299720	duplication	OSC5305	SNP array	Probe signal intensity	6
nssv18300393	duplication	OSC5573	SNP array	Probe signal intensity	8
nssv18300589	duplication	OSC5543	SNP array	Probe signal intensity	10
nssv18300637	duplication	OSC5577	SNP array	Probe signal intensity	8
nssv18300644	duplication	OSC5580	SNP array	Probe signal intensity	nssv18300403, nssv18300643
nssv18301093	deletion	OSC5434	SNP array	Probe signal intensity	7
nssv18301288	duplication	OSC5578	SNP array	Probe signal intensity	9
nssv18301327	duplication	OSC5609	SNP array	Probe signal intensity	14
nssv18301443	duplication	OSC5670	SNP array	Probe signal intensity
nssv18301745	duplication	OSC5713	SNP array	Probe signal intensity	7
nssv18301986	duplication	OSC0582	SNP array	Probe signal intensity	14
nssv18302004	deletion	OSC5637	SNP array	Probe signal intensity	8
nssv18302329	duplication	OSC5676	SNP array	Probe signal intensity	5
nssv18302367	duplication	OSC5701	SNP array	Probe signal intensity	nssv18301727, nssv18301486
nssv18314199	deletion	OSC0825	SNP array	Probe signal intensity	5
nssv18319479	deletion	OSC0917	SNP array	Probe signal intensity	7
nssv18319939	duplication	OSC0965	SNP array	Probe signal intensity	7
nssv18321513	deletion	OSC0118	SNP array	Probe signal intensity	5
nssv18325558	duplication	OSC1883	SNP array	Probe signal intensity	6

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18283109	Remapped	Perfect	NC_000005.10:g.(?_ 743890)_(825214_?) del	GRCh38.p12	First Pass	NC_000005.10	Chr5	743,890	825,214
nssv18284087	Remapped	Perfect	NC_000005.10:g.(?_ 743890)_(825214_?) del	GRCh38.p12	First Pass	NC_000005.10	Chr5	743,890	825,214
nssv18284673	Remapped	Perfect	NC_000005.10:g.(?_ 743890)_(825214_?) dup	GRCh38.p12	First Pass	NC_000005.10	Chr5	743,890	825,214
nssv18286738	Remapped	Perfect	NC_000005.10:g.(?_ 743890)_(825214_?) dup	GRCh38.p12	First Pass	NC_000005.10	Chr5	743,890	825,214
nssv18287596	Remapped	Perfect	NC_000005.10:g.(?_ 743890)_(825214_?) dup	GRCh38.p12	First Pass	NC_000005.10	Chr5	743,890	825,214
nssv18288508	Remapped	Perfect	NC_000005.10:g.(?_ 743890)_(825214_?) del	GRCh38.p12	First Pass	NC_000005.10	Chr5	743,890	825,214
nssv18289122	Remapped	Perfect	NC_000005.10:g.(?_ 743890)_(825214_?) dup	GRCh38.p12	First Pass	NC_000005.10	Chr5	743,890	825,214
nssv18289760	Remapped	Perfect	NC_000005.10:g.(?_ 743890)_(825214_?) del	GRCh38.p12	First Pass	NC_000005.10	Chr5	743,890	825,214
nssv18290548	Remapped	Perfect	NC_000005.10:g.(?_ 743890)_(825214_?) dup	GRCh38.p12	First Pass	NC_000005.10	Chr5	743,890	825,214
nssv18294539	Remapped	Perfect	NC_000005.10:g.(?_ 743890)_(825214_?) dup	GRCh38.p12	First Pass	NC_000005.10	Chr5	743,890	825,214
nssv18297797	Remapped	Perfect	NC_000005.10:g.(?_ 743890)_(825214_?) dup	GRCh38.p12	First Pass	NC_000005.10	Chr5	743,890	825,214
nssv18298115	Remapped	Perfect	NC_000005.10:g.(?_ 743890)_(825214_?) dup	GRCh38.p12	First Pass	NC_000005.10	Chr5	743,890	825,214
nssv18298181	Remapped	Perfect	NC_000005.10:g.(?_ 743890)_(825214_?) dup	GRCh38.p12	First Pass	NC_000005.10	Chr5	743,890	825,214
nssv18298277	Remapped	Perfect	NC_000005.10:g.(?_ 743890)_(825214_?) dup	GRCh38.p12	First Pass	NC_000005.10	Chr5	743,890	825,214
nssv18298360	Remapped	Perfect	NC_000005.10:g.(?_ 743890)_(825214_?) dup	GRCh38.p12	First Pass	NC_000005.10	Chr5	743,890	825,214
nssv18298690	Remapped	Perfect	NC_000005.10:g.(?_ 743890)_(825214_?) dup	GRCh38.p12	First Pass	NC_000005.10	Chr5	743,890	825,214
nssv18298714	Remapped	Perfect	NC_000005.10:g.(?_ 743890)_(825214_?) dup	GRCh38.p12	First Pass	NC_000005.10	Chr5	743,890	825,214
nssv18298776	Remapped	Perfect	NC_000005.10:g.(?_ 743890)_(825214_?) dup	GRCh38.p12	First Pass	NC_000005.10	Chr5	743,890	825,214
nssv18298870	Remapped	Perfect	NC_000005.10:g.(?_ 743890)_(825214_?) dup	GRCh38.p12	First Pass	NC_000005.10	Chr5	743,890	825,214
nssv18298911	Remapped	Perfect	NC_000005.10:g.(?_ 743890)_(825214_?) dup	GRCh38.p12	First Pass	NC_000005.10	Chr5	743,890	825,214
nssv18298926	Remapped	Perfect	NC_000005.10:g.(?_ 743890)_(825214_?) dup	GRCh38.p12	First Pass	NC_000005.10	Chr5	743,890	825,214
nssv18299104	Remapped	Perfect	NC_000005.10:g.(?_ 743890)_(825214_?) dup	GRCh38.p12	First Pass	NC_000005.10	Chr5	743,890	825,214
nssv18299692	Remapped	Perfect	NC_000005.10:g.(?_ 743890)_(825214_?) dup	GRCh38.p12	First Pass	NC_000005.10	Chr5	743,890	825,214
nssv18299720	Remapped	Perfect	NC_000005.10:g.(?_ 743890)_(825214_?) dup	GRCh38.p12	First Pass	NC_000005.10	Chr5	743,890	825,214
nssv18300393	Remapped	Perfect	NC_000005.10:g.(?_ 743890)_(825214_?) dup	GRCh38.p12	First Pass	NC_000005.10	Chr5	743,890	825,214
nssv18300589	Remapped	Perfect	NC_000005.10:g.(?_ 743890)_(825214_?) dup	GRCh38.p12	First Pass	NC_000005.10	Chr5	743,890	825,214
nssv18300637	Remapped	Perfect	NC_000005.10:g.(?_ 743890)_(825214_?) dup	GRCh38.p12	First Pass	NC_000005.10	Chr5	743,890	825,214
nssv18300644	Remapped	Perfect	NC_000005.10:g.(?_ 743890)_(825214_?) dup	GRCh38.p12	First Pass	NC_000005.10	Chr5	743,890	825,214
nssv18301093	Remapped	Perfect	NC_000005.10:g.(?_ 743890)_(825214_?) del	GRCh38.p12	First Pass	NC_000005.10	Chr5	743,890	825,214
nssv18301288	Remapped	Perfect	NC_000005.10:g.(?_ 743890)_(825214_?) dup	GRCh38.p12	First Pass	NC_000005.10	Chr5	743,890	825,214
nssv18301327	Remapped	Perfect	NC_000005.10:g.(?_ 743890)_(825214_?) dup	GRCh38.p12	First Pass	NC_000005.10	Chr5	743,890	825,214
nssv18301443	Remapped	Perfect	NC_000005.10:g.(?_ 743890)_(825214_?) dup	GRCh38.p12	First Pass	NC_000005.10	Chr5	743,890	825,214
nssv18301745	Remapped	Perfect	NC_000005.10:g.(?_ 743890)_(825214_?) dup	GRCh38.p12	First Pass	NC_000005.10	Chr5	743,890	825,214
nssv18301986	Remapped	Perfect	NC_000005.10:g.(?_ 743890)_(825214_?) dup	GRCh38.p12	First Pass	NC_000005.10	Chr5	743,890	825,214
nssv18302004	Remapped	Perfect	NC_000005.10:g.(?_ 743890)_(825214_?) del	GRCh38.p12	First Pass	NC_000005.10	Chr5	743,890	825,214
nssv18302329	Remapped	Perfect	NC_000005.10:g.(?_ 743890)_(825214_?) dup	GRCh38.p12	First Pass	NC_000005.10	Chr5	743,890	825,214
nssv18302367	Remapped	Perfect	NC_000005.10:g.(?_ 743890)_(825214_?) dup	GRCh38.p12	First Pass	NC_000005.10	Chr5	743,890	825,214
nssv18314199	Remapped	Perfect	NC_000005.10:g.(?_ 743890)_(825214_?) del	GRCh38.p12	First Pass	NC_000005.10	Chr5	743,890	825,214
nssv18319479	Remapped	Perfect	NC_000005.10:g.(?_ 743890)_(825214_?) del	GRCh38.p12	First Pass	NC_000005.10	Chr5	743,890	825,214
nssv18319939	Remapped	Perfect	NC_000005.10:g.(?_ 743890)_(825214_?) dup	GRCh38.p12	First Pass	NC_000005.10	Chr5	743,890	825,214
nssv18321513	Remapped	Perfect	NC_000005.10:g.(?_ 743890)_(825214_?) del	GRCh38.p12	First Pass	NC_000005.10	Chr5	743,890	825,214
nssv18325558	Remapped	Perfect	NC_000005.10:g.(?_ 743890)_(825214_?) dup	GRCh38.p12	First Pass	NC_000005.10	Chr5	743,890	825,214
nssv18283109	Submitted genomic		NC_000005.9:g.(?_7 44005)_(825329_?)d el	GRCh37 (hg19)		NC_000005.9	Chr5	744,005	825,329
nssv18284087	Submitted genomic		NC_000005.9:g.(?_7 44005)_(825329_?)d el	GRCh37 (hg19)		NC_000005.9	Chr5	744,005	825,329
nssv18284673	Submitted genomic		NC_000005.9:g.(?_7 44005)_(825329_?)d up	GRCh37 (hg19)		NC_000005.9	Chr5	744,005	825,329
nssv18286738	Submitted genomic		NC_000005.9:g.(?_7 44005)_(825329_?)d up	GRCh37 (hg19)		NC_000005.9	Chr5	744,005	825,329
nssv18287596	Submitted genomic		NC_000005.9:g.(?_7 44005)_(825329_?)d up	GRCh37 (hg19)		NC_000005.9	Chr5	744,005	825,329
nssv18288508	Submitted genomic		NC_000005.9:g.(?_7 44005)_(825329_?)d el	GRCh37 (hg19)		NC_000005.9	Chr5	744,005	825,329
nssv18289122	Submitted genomic		NC_000005.9:g.(?_7 44005)_(825329_?)d up	GRCh37 (hg19)		NC_000005.9	Chr5	744,005	825,329
nssv18289760	Submitted genomic		NC_000005.9:g.(?_7 44005)_(825329_?)d el	GRCh37 (hg19)		NC_000005.9	Chr5	744,005	825,329
nssv18290548	Submitted genomic		NC_000005.9:g.(?_7 44005)_(825329_?)d up	GRCh37 (hg19)		NC_000005.9	Chr5	744,005	825,329
nssv18294539	Submitted genomic		NC_000005.9:g.(?_7 44005)_(825329_?)d up	GRCh37 (hg19)		NC_000005.9	Chr5	744,005	825,329
nssv18297797	Submitted genomic		NC_000005.9:g.(?_7 44005)_(825329_?)d up	GRCh37 (hg19)		NC_000005.9	Chr5	744,005	825,329
nssv18298115	Submitted genomic		NC_000005.9:g.(?_7 44005)_(825329_?)d up	GRCh37 (hg19)		NC_000005.9	Chr5	744,005	825,329
nssv18298181	Submitted genomic		NC_000005.9:g.(?_7 44005)_(825329_?)d up	GRCh37 (hg19)		NC_000005.9	Chr5	744,005	825,329
nssv18298277	Submitted genomic		NC_000005.9:g.(?_7 44005)_(825329_?)d up	GRCh37 (hg19)		NC_000005.9	Chr5	744,005	825,329
nssv18298360	Submitted genomic		NC_000005.9:g.(?_7 44005)_(825329_?)d up	GRCh37 (hg19)		NC_000005.9	Chr5	744,005	825,329
nssv18298690	Submitted genomic		NC_000005.9:g.(?_7 44005)_(825329_?)d up	GRCh37 (hg19)		NC_000005.9	Chr5	744,005	825,329
nssv18298714	Submitted genomic		NC_000005.9:g.(?_7 44005)_(825329_?)d up	GRCh37 (hg19)		NC_000005.9	Chr5	744,005	825,329
nssv18298776	Submitted genomic		NC_000005.9:g.(?_7 44005)_(825329_?)d up	GRCh37 (hg19)		NC_000005.9	Chr5	744,005	825,329
nssv18298870	Submitted genomic		NC_000005.9:g.(?_7 44005)_(825329_?)d up	GRCh37 (hg19)		NC_000005.9	Chr5	744,005	825,329
nssv18298911	Submitted genomic		NC_000005.9:g.(?_7 44005)_(825329_?)d up	GRCh37 (hg19)		NC_000005.9	Chr5	744,005	825,329
nssv18298926	Submitted genomic		NC_000005.9:g.(?_7 44005)_(825329_?)d up	GRCh37 (hg19)		NC_000005.9	Chr5	744,005	825,329
nssv18299104	Submitted genomic		NC_000005.9:g.(?_7 44005)_(825329_?)d up	GRCh37 (hg19)		NC_000005.9	Chr5	744,005	825,329
nssv18299692	Submitted genomic		NC_000005.9:g.(?_7 44005)_(825329_?)d up	GRCh37 (hg19)		NC_000005.9	Chr5	744,005	825,329
nssv18299720	Submitted genomic		NC_000005.9:g.(?_7 44005)_(825329_?)d up	GRCh37 (hg19)		NC_000005.9	Chr5	744,005	825,329
nssv18300393	Submitted genomic		NC_000005.9:g.(?_7 44005)_(825329_?)d up	GRCh37 (hg19)		NC_000005.9	Chr5	744,005	825,329
nssv18300589	Submitted genomic		NC_000005.9:g.(?_7 44005)_(825329_?)d up	GRCh37 (hg19)		NC_000005.9	Chr5	744,005	825,329
nssv18300637	Submitted genomic		NC_000005.9:g.(?_7 44005)_(825329_?)d up	GRCh37 (hg19)		NC_000005.9	Chr5	744,005	825,329
nssv18300644	Submitted genomic		NC_000005.9:g.(?_7 44005)_(825329_?)d up	GRCh37 (hg19)		NC_000005.9	Chr5	744,005	825,329
nssv18301093	Submitted genomic		NC_000005.9:g.(?_7 44005)_(825329_?)d el	GRCh37 (hg19)		NC_000005.9	Chr5	744,005	825,329
nssv18301288	Submitted genomic		NC_000005.9:g.(?_7 44005)_(825329_?)d up	GRCh37 (hg19)		NC_000005.9	Chr5	744,005	825,329
nssv18301327	Submitted genomic		NC_000005.9:g.(?_7 44005)_(825329_?)d up	GRCh37 (hg19)		NC_000005.9	Chr5	744,005	825,329
nssv18301443	Submitted genomic		NC_000005.9:g.(?_7 44005)_(825329_?)d up	GRCh37 (hg19)		NC_000005.9	Chr5	744,005	825,329
nssv18301745	Submitted genomic		NC_000005.9:g.(?_7 44005)_(825329_?)d up	GRCh37 (hg19)		NC_000005.9	Chr5	744,005	825,329
nssv18301986	Submitted genomic		NC_000005.9:g.(?_7 44005)_(825329_?)d up	GRCh37 (hg19)		NC_000005.9	Chr5	744,005	825,329
nssv18302004	Submitted genomic		NC_000005.9:g.(?_7 44005)_(825329_?)d el	GRCh37 (hg19)		NC_000005.9	Chr5	744,005	825,329
nssv18302329	Submitted genomic		NC_000005.9:g.(?_7 44005)_(825329_?)d up	GRCh37 (hg19)		NC_000005.9	Chr5	744,005	825,329
nssv18302367	Submitted genomic		NC_000005.9:g.(?_7 44005)_(825329_?)d up	GRCh37 (hg19)		NC_000005.9	Chr5	744,005	825,329
nssv18314199	Submitted genomic		NC_000005.9:g.(?_7 44005)_(825329_?)d el	GRCh37 (hg19)		NC_000005.9	Chr5	744,005	825,329
nssv18319479	Submitted genomic		NC_000005.9:g.(?_7 44005)_(825329_?)d el	GRCh37 (hg19)		NC_000005.9	Chr5	744,005	825,329
nssv18319939	Submitted genomic		NC_000005.9:g.(?_7 44005)_(825329_?)d up	GRCh37 (hg19)		NC_000005.9	Chr5	744,005	825,329
nssv18321513	Submitted genomic		NC_000005.9:g.(?_7 44005)_(825329_?)d el	GRCh37 (hg19)		NC_000005.9	Chr5	744,005	825,329
nssv18325558	Submitted genomic		NC_000005.9:g.(?_7 44005)_(825329_?)d up	GRCh37 (hg19)		NC_000005.9	Chr5	744,005	825,329

dbVar

Database of genomic structural variation

nsv6630373

Links to Other Resources

Genome View

Variant Region Placement Information

Variant Call Information

Variant Call Placement Information

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant