nsv6629371

Organism: Homo sapiens

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

Variant Calls:12
Validation:Not tested
Clinical Assertions: No
Region Size:43,229

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: 599 SVs from 77 studies. See in: genome view

Remapped(Score: Perfect):144,073,750-144,116,978

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6629371	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	144,073,750	144,116,978
nsv6629371	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	144,994,903	145,038,131

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv18296700	duplication	OSC4871	SNP array	Probe signal intensity	7
nssv18296928	duplication	OSC4861	SNP array	Probe signal intensity	7
nssv18297228	duplication	OSC4837	SNP array	Probe signal intensity	5
nssv18297236	duplication	OSC4845	SNP array	Probe signal intensity	10
nssv18297546	duplication	OSC4831	SNP array	Probe signal intensity	6
nssv18298069	duplication	OSC5036	SNP array	Probe signal intensity	8
nssv18298087	duplication	OSC5049	SNP array	Probe signal intensity	6
nssv18298136	duplication	OSC5077	SNP array	Probe signal intensity	7
nssv18299844	duplication	OSC5175	SNP array	Probe signal intensity	5
nssv18299948	duplication	OSC5256	SNP array	Probe signal intensity	nssv18299945, nssv18299946
nssv18300012	duplication	OSC5310	SNP array	Probe signal intensity	6
nssv18300816	duplication	OSC5445	SNP array	Probe signal intensity	nssv18300815, nssv18300468, nssv18300224

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18296700	Remapped	Perfect	NC_000004.12:g.(?_ 144073750)_(144116 978_?)dup	GRCh38.p12	First Pass	NC_000004.12	Chr4	144,073,750	144,116,978
nssv18296928	Remapped	Perfect	NC_000004.12:g.(?_ 144073750)_(144116 978_?)dup	GRCh38.p12	First Pass	NC_000004.12	Chr4	144,073,750	144,116,978
nssv18297228	Remapped	Perfect	NC_000004.12:g.(?_ 144073750)_(144116 978_?)dup	GRCh38.p12	First Pass	NC_000004.12	Chr4	144,073,750	144,116,978
nssv18297236	Remapped	Perfect	NC_000004.12:g.(?_ 144073750)_(144116 978_?)dup	GRCh38.p12	First Pass	NC_000004.12	Chr4	144,073,750	144,116,978
nssv18297546	Remapped	Perfect	NC_000004.12:g.(?_ 144073750)_(144116 978_?)dup	GRCh38.p12	First Pass	NC_000004.12	Chr4	144,073,750	144,116,978
nssv18298069	Remapped	Perfect	NC_000004.12:g.(?_ 144073750)_(144116 978_?)dup	GRCh38.p12	First Pass	NC_000004.12	Chr4	144,073,750	144,116,978
nssv18298087	Remapped	Perfect	NC_000004.12:g.(?_ 144073750)_(144116 978_?)dup	GRCh38.p12	First Pass	NC_000004.12	Chr4	144,073,750	144,116,978
nssv18298136	Remapped	Perfect	NC_000004.12:g.(?_ 144073750)_(144116 978_?)dup	GRCh38.p12	First Pass	NC_000004.12	Chr4	144,073,750	144,116,978
nssv18299844	Remapped	Perfect	NC_000004.12:g.(?_ 144073750)_(144116 978_?)dup	GRCh38.p12	First Pass	NC_000004.12	Chr4	144,073,750	144,116,978
nssv18299948	Remapped	Perfect	NC_000004.12:g.(?_ 144073750)_(144116 978_?)dup	GRCh38.p12	First Pass	NC_000004.12	Chr4	144,073,750	144,116,978
nssv18300012	Remapped	Perfect	NC_000004.12:g.(?_ 144073750)_(144116 978_?)dup	GRCh38.p12	First Pass	NC_000004.12	Chr4	144,073,750	144,116,978
nssv18300816	Remapped	Perfect	NC_000004.12:g.(?_ 144073750)_(144116 978_?)dup	GRCh38.p12	First Pass	NC_000004.12	Chr4	144,073,750	144,116,978
nssv18296700	Submitted genomic		NC_000004.11:g.(?_ 144994903)_(145038 131_?)dup	GRCh37 (hg19)		NC_000004.11	Chr4	144,994,903	145,038,131
nssv18296928	Submitted genomic		NC_000004.11:g.(?_ 144994903)_(145038 131_?)dup	GRCh37 (hg19)		NC_000004.11	Chr4	144,994,903	145,038,131
nssv18297228	Submitted genomic		NC_000004.11:g.(?_ 144994903)_(145038 131_?)dup	GRCh37 (hg19)		NC_000004.11	Chr4	144,994,903	145,038,131
nssv18297236	Submitted genomic		NC_000004.11:g.(?_ 144994903)_(145038 131_?)dup	GRCh37 (hg19)		NC_000004.11	Chr4	144,994,903	145,038,131
nssv18297546	Submitted genomic		NC_000004.11:g.(?_ 144994903)_(145038 131_?)dup	GRCh37 (hg19)		NC_000004.11	Chr4	144,994,903	145,038,131
nssv18298069	Submitted genomic		NC_000004.11:g.(?_ 144994903)_(145038 131_?)dup	GRCh37 (hg19)		NC_000004.11	Chr4	144,994,903	145,038,131
nssv18298087	Submitted genomic		NC_000004.11:g.(?_ 144994903)_(145038 131_?)dup	GRCh37 (hg19)		NC_000004.11	Chr4	144,994,903	145,038,131
nssv18298136	Submitted genomic		NC_000004.11:g.(?_ 144994903)_(145038 131_?)dup	GRCh37 (hg19)		NC_000004.11	Chr4	144,994,903	145,038,131
nssv18299844	Submitted genomic		NC_000004.11:g.(?_ 144994903)_(145038 131_?)dup	GRCh37 (hg19)		NC_000004.11	Chr4	144,994,903	145,038,131
nssv18299948	Submitted genomic		NC_000004.11:g.(?_ 144994903)_(145038 131_?)dup	GRCh37 (hg19)		NC_000004.11	Chr4	144,994,903	145,038,131
nssv18300012	Submitted genomic		NC_000004.11:g.(?_ 144994903)_(145038 131_?)dup	GRCh37 (hg19)		NC_000004.11	Chr4	144,994,903	145,038,131
nssv18300816	Submitted genomic		NC_000004.11:g.(?_ 144994903)_(145038 131_?)dup	GRCh37 (hg19)		NC_000004.11	Chr4	144,994,903	145,038,131

dbVar

Database of genomic structural variation

nsv6629371

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