nsv6625678

Organism: Homo sapiens

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

Variant Calls:36
Validation:Not tested
Clinical Assertions: No
Region Size:57,041

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: 1165 SVs from 92 studies. See in: genome view

Remapped(Score: Perfect):16,889,836-16,946,876

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6625678	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	16,889,836	16,946,876
nsv6625678	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	17,216,331	17,273,371

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv18281679	duplication	OSC2081	SNP array	Probe signal intensity	7
nssv18282131	duplication	OSC2181	SNP array	Probe signal intensity	5
nssv18283063	duplication	OSC2408	SNP array	Probe signal intensity	8
nssv18285355	deletion	OSC2708	SNP array	Probe signal intensity	5
nssv18285557	deletion	OSC2847	SNP array	Probe signal intensity	5
nssv18287584	duplication	OSC2997	SNP array	Probe signal intensity	8
nssv18288584	duplication	OSC0338	SNP array	Probe signal intensity	5
nssv18289032	deletion	OSC0348	SNP array	Probe signal intensity	6
nssv18289722	duplication	OSC3422	SNP array	Probe signal intensity	8
nssv18291046	duplication	OSC3702	SNP array	Probe signal intensity	nssv18290456
nssv18291070	duplication	OSC3723	SNP array	Probe signal intensity	5
nssv18292713	deletion	OSC3984	SNP array	Probe signal intensity	5
nssv18293131	deletion	OSC4117	SNP array	Probe signal intensity	7
nssv18293218	duplication	OSC4178	SNP array	Probe signal intensity	6
nssv18293583	duplication	OSC4194	SNP array	Probe signal intensity	nssv18293008, nssv18293244, nssv18293584
nssv18293698	duplication	OSC4045	SNP array	Probe signal intensity	5
nssv18293905	duplication	OSC4195	SNP array	Probe signal intensity	nssv18293904, nssv18293906, nssv18293009
nssv18293942	duplication	OSC4203	SNP array	Probe signal intensity	9
nssv18294028	duplication	OSC4264	SNP array	Probe signal intensity	7
nssv18294412	deletion	OSC4360	SNP array	Probe signal intensity	7
nssv18294686	deletion	OSC4325	SNP array	Probe signal intensity	7
nssv18297669	deletion	OSC4905	SNP array	Probe signal intensity	6
nssv18298716	duplication	OSC0514	SNP array	Probe signal intensity	7
nssv18300109	deletion	OSC5355	SNP array	Probe signal intensity	nssv18300077, nssv18300078
nssv18300286	deletion	OSC5494	SNP array	Probe signal intensity	8
nssv18300354	duplication	OSC0574	SNP array	Probe signal intensity	9
nssv18300691	deletion	OSC5615	SNP array	Probe signal intensity	6
nssv18301313	duplication	OSC0057	SNP array	Probe signal intensity	8
nssv18312071	deletion	OSC0790	SNP array	Probe signal intensity	10
nssv18315007	duplication	OSC0846	SNP array	Probe signal intensity	nssv18315666, nssv18315009
nssv18317481	duplication	OSC0887	SNP array	Probe signal intensity	8
nssv18321603	duplication	OSC1249	SNP array	Probe signal intensity	nssv18321875, nssv18321604, nssv18322145
nssv18323325	duplication	OSC1418	SNP array	Probe signal intensity	6
nssv18323542	duplication	OSC1575	SNP array	Probe signal intensity	10
nssv18324911	duplication	OSC1886	SNP array	Probe signal intensity	8
nssv18325788	duplication	OSC1860	SNP array	Probe signal intensity	8

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18281679	Remapped	Perfect	NC_000001.11:g.(?_ 16889836)_(1694687 6_?)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	16,889,836	16,946,876
nssv18282131	Remapped	Perfect	NC_000001.11:g.(?_ 16889836)_(1694687 6_?)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	16,889,836	16,946,876
nssv18283063	Remapped	Perfect	NC_000001.11:g.(?_ 16889836)_(1694687 6_?)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	16,889,836	16,946,876
nssv18285355	Remapped	Perfect	NC_000001.11:g.(?_ 16889836)_(1694687 6_?)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	16,889,836	16,946,876
nssv18285557	Remapped	Perfect	NC_000001.11:g.(?_ 16889836)_(1694687 6_?)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	16,889,836	16,946,876
nssv18287584	Remapped	Perfect	NC_000001.11:g.(?_ 16889836)_(1694687 6_?)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	16,889,836	16,946,876
nssv18288584	Remapped	Perfect	NC_000001.11:g.(?_ 16889836)_(1694687 6_?)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	16,889,836	16,946,876
nssv18289032	Remapped	Perfect	NC_000001.11:g.(?_ 16889836)_(1694687 6_?)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	16,889,836	16,946,876
nssv18289722	Remapped	Perfect	NC_000001.11:g.(?_ 16889836)_(1694687 6_?)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	16,889,836	16,946,876
nssv18291046	Remapped	Perfect	NC_000001.11:g.(?_ 16889836)_(1694687 6_?)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	16,889,836	16,946,876
nssv18291070	Remapped	Perfect	NC_000001.11:g.(?_ 16889836)_(1694687 6_?)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	16,889,836	16,946,876
nssv18292713	Remapped	Perfect	NC_000001.11:g.(?_ 16889836)_(1694687 6_?)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	16,889,836	16,946,876
nssv18293131	Remapped	Perfect	NC_000001.11:g.(?_ 16889836)_(1694687 6_?)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	16,889,836	16,946,876
nssv18293218	Remapped	Perfect	NC_000001.11:g.(?_ 16889836)_(1694687 6_?)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	16,889,836	16,946,876
nssv18293583	Remapped	Perfect	NC_000001.11:g.(?_ 16889836)_(1694687 6_?)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	16,889,836	16,946,876
nssv18293698	Remapped	Perfect	NC_000001.11:g.(?_ 16889836)_(1694687 6_?)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	16,889,836	16,946,876
nssv18293905	Remapped	Perfect	NC_000001.11:g.(?_ 16889836)_(1694687 6_?)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	16,889,836	16,946,876
nssv18293942	Remapped	Perfect	NC_000001.11:g.(?_ 16889836)_(1694687 6_?)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	16,889,836	16,946,876
nssv18294028	Remapped	Perfect	NC_000001.11:g.(?_ 16889836)_(1694687 6_?)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	16,889,836	16,946,876
nssv18294412	Remapped	Perfect	NC_000001.11:g.(?_ 16889836)_(1694687 6_?)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	16,889,836	16,946,876
nssv18294686	Remapped	Perfect	NC_000001.11:g.(?_ 16889836)_(1694687 6_?)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	16,889,836	16,946,876
nssv18297669	Remapped	Perfect	NC_000001.11:g.(?_ 16889836)_(1694687 6_?)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	16,889,836	16,946,876
nssv18298716	Remapped	Perfect	NC_000001.11:g.(?_ 16889836)_(1694687 6_?)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	16,889,836	16,946,876
nssv18300109	Remapped	Perfect	NC_000001.11:g.(?_ 16889836)_(1694687 6_?)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	16,889,836	16,946,876
nssv18300286	Remapped	Perfect	NC_000001.11:g.(?_ 16889836)_(1694687 6_?)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	16,889,836	16,946,876
nssv18300354	Remapped	Perfect	NC_000001.11:g.(?_ 16889836)_(1694687 6_?)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	16,889,836	16,946,876
nssv18300691	Remapped	Perfect	NC_000001.11:g.(?_ 16889836)_(1694687 6_?)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	16,889,836	16,946,876
nssv18301313	Remapped	Perfect	NC_000001.11:g.(?_ 16889836)_(1694687 6_?)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	16,889,836	16,946,876
nssv18312071	Remapped	Perfect	NC_000001.11:g.(?_ 16889836)_(1694687 6_?)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	16,889,836	16,946,876
nssv18315007	Remapped	Perfect	NC_000001.11:g.(?_ 16889836)_(1694687 6_?)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	16,889,836	16,946,876
nssv18317481	Remapped	Perfect	NC_000001.11:g.(?_ 16889836)_(1694687 6_?)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	16,889,836	16,946,876
nssv18321603	Remapped	Perfect	NC_000001.11:g.(?_ 16889836)_(1694687 6_?)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	16,889,836	16,946,876
nssv18323325	Remapped	Perfect	NC_000001.11:g.(?_ 16889836)_(1694687 6_?)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	16,889,836	16,946,876
nssv18323542	Remapped	Perfect	NC_000001.11:g.(?_ 16889836)_(1694687 6_?)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	16,889,836	16,946,876
nssv18324911	Remapped	Perfect	NC_000001.11:g.(?_ 16889836)_(1694687 6_?)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	16,889,836	16,946,876
nssv18325788	Remapped	Perfect	NC_000001.11:g.(?_ 16889836)_(1694687 6_?)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	16,889,836	16,946,876
nssv18281679	Submitted genomic		NC_000001.10:g.(?_ 17216331)_(1727337 1_?)dup	GRCh37 (hg19)		NC_000001.10	Chr1	17,216,331	17,273,371
nssv18282131	Submitted genomic		NC_000001.10:g.(?_ 17216331)_(1727337 1_?)dup	GRCh37 (hg19)		NC_000001.10	Chr1	17,216,331	17,273,371
nssv18283063	Submitted genomic		NC_000001.10:g.(?_ 17216331)_(1727337 1_?)dup	GRCh37 (hg19)		NC_000001.10	Chr1	17,216,331	17,273,371
nssv18285355	Submitted genomic		NC_000001.10:g.(?_ 17216331)_(1727337 1_?)del	GRCh37 (hg19)		NC_000001.10	Chr1	17,216,331	17,273,371
nssv18285557	Submitted genomic		NC_000001.10:g.(?_ 17216331)_(1727337 1_?)del	GRCh37 (hg19)		NC_000001.10	Chr1	17,216,331	17,273,371
nssv18287584	Submitted genomic		NC_000001.10:g.(?_ 17216331)_(1727337 1_?)dup	GRCh37 (hg19)		NC_000001.10	Chr1	17,216,331	17,273,371
nssv18288584	Submitted genomic		NC_000001.10:g.(?_ 17216331)_(1727337 1_?)dup	GRCh37 (hg19)		NC_000001.10	Chr1	17,216,331	17,273,371
nssv18289032	Submitted genomic		NC_000001.10:g.(?_ 17216331)_(1727337 1_?)del	GRCh37 (hg19)		NC_000001.10	Chr1	17,216,331	17,273,371
nssv18289722	Submitted genomic		NC_000001.10:g.(?_ 17216331)_(1727337 1_?)dup	GRCh37 (hg19)		NC_000001.10	Chr1	17,216,331	17,273,371
nssv18291046	Submitted genomic		NC_000001.10:g.(?_ 17216331)_(1727337 1_?)dup	GRCh37 (hg19)		NC_000001.10	Chr1	17,216,331	17,273,371
nssv18291070	Submitted genomic		NC_000001.10:g.(?_ 17216331)_(1727337 1_?)dup	GRCh37 (hg19)		NC_000001.10	Chr1	17,216,331	17,273,371
nssv18292713	Submitted genomic		NC_000001.10:g.(?_ 17216331)_(1727337 1_?)del	GRCh37 (hg19)		NC_000001.10	Chr1	17,216,331	17,273,371
nssv18293131	Submitted genomic		NC_000001.10:g.(?_ 17216331)_(1727337 1_?)del	GRCh37 (hg19)		NC_000001.10	Chr1	17,216,331	17,273,371
nssv18293218	Submitted genomic		NC_000001.10:g.(?_ 17216331)_(1727337 1_?)dup	GRCh37 (hg19)		NC_000001.10	Chr1	17,216,331	17,273,371
nssv18293583	Submitted genomic		NC_000001.10:g.(?_ 17216331)_(1727337 1_?)dup	GRCh37 (hg19)		NC_000001.10	Chr1	17,216,331	17,273,371
nssv18293698	Submitted genomic		NC_000001.10:g.(?_ 17216331)_(1727337 1_?)dup	GRCh37 (hg19)		NC_000001.10	Chr1	17,216,331	17,273,371
nssv18293905	Submitted genomic		NC_000001.10:g.(?_ 17216331)_(1727337 1_?)dup	GRCh37 (hg19)		NC_000001.10	Chr1	17,216,331	17,273,371
nssv18293942	Submitted genomic		NC_000001.10:g.(?_ 17216331)_(1727337 1_?)dup	GRCh37 (hg19)		NC_000001.10	Chr1	17,216,331	17,273,371
nssv18294028	Submitted genomic		NC_000001.10:g.(?_ 17216331)_(1727337 1_?)dup	GRCh37 (hg19)		NC_000001.10	Chr1	17,216,331	17,273,371
nssv18294412	Submitted genomic		NC_000001.10:g.(?_ 17216331)_(1727337 1_?)del	GRCh37 (hg19)		NC_000001.10	Chr1	17,216,331	17,273,371
nssv18294686	Submitted genomic		NC_000001.10:g.(?_ 17216331)_(1727337 1_?)del	GRCh37 (hg19)		NC_000001.10	Chr1	17,216,331	17,273,371
nssv18297669	Submitted genomic		NC_000001.10:g.(?_ 17216331)_(1727337 1_?)del	GRCh37 (hg19)		NC_000001.10	Chr1	17,216,331	17,273,371
nssv18298716	Submitted genomic		NC_000001.10:g.(?_ 17216331)_(1727337 1_?)dup	GRCh37 (hg19)		NC_000001.10	Chr1	17,216,331	17,273,371
nssv18300109	Submitted genomic		NC_000001.10:g.(?_ 17216331)_(1727337 1_?)del	GRCh37 (hg19)		NC_000001.10	Chr1	17,216,331	17,273,371
nssv18300286	Submitted genomic		NC_000001.10:g.(?_ 17216331)_(1727337 1_?)del	GRCh37 (hg19)		NC_000001.10	Chr1	17,216,331	17,273,371
nssv18300354	Submitted genomic		NC_000001.10:g.(?_ 17216331)_(1727337 1_?)dup	GRCh37 (hg19)		NC_000001.10	Chr1	17,216,331	17,273,371
nssv18300691	Submitted genomic		NC_000001.10:g.(?_ 17216331)_(1727337 1_?)del	GRCh37 (hg19)		NC_000001.10	Chr1	17,216,331	17,273,371
nssv18301313	Submitted genomic		NC_000001.10:g.(?_ 17216331)_(1727337 1_?)dup	GRCh37 (hg19)		NC_000001.10	Chr1	17,216,331	17,273,371
nssv18312071	Submitted genomic		NC_000001.10:g.(?_ 17216331)_(1727337 1_?)del	GRCh37 (hg19)		NC_000001.10	Chr1	17,216,331	17,273,371
nssv18315007	Submitted genomic		NC_000001.10:g.(?_ 17216331)_(1727337 1_?)dup	GRCh37 (hg19)		NC_000001.10	Chr1	17,216,331	17,273,371
nssv18317481	Submitted genomic		NC_000001.10:g.(?_ 17216331)_(1727337 1_?)dup	GRCh37 (hg19)		NC_000001.10	Chr1	17,216,331	17,273,371
nssv18321603	Submitted genomic		NC_000001.10:g.(?_ 17216331)_(1727337 1_?)dup	GRCh37 (hg19)		NC_000001.10	Chr1	17,216,331	17,273,371
nssv18323325	Submitted genomic		NC_000001.10:g.(?_ 17216331)_(1727337 1_?)dup	GRCh37 (hg19)		NC_000001.10	Chr1	17,216,331	17,273,371
nssv18323542	Submitted genomic		NC_000001.10:g.(?_ 17216331)_(1727337 1_?)dup	GRCh37 (hg19)		NC_000001.10	Chr1	17,216,331	17,273,371
nssv18324911	Submitted genomic		NC_000001.10:g.(?_ 17216331)_(1727337 1_?)dup	GRCh37 (hg19)		NC_000001.10	Chr1	17,216,331	17,273,371
nssv18325788	Submitted genomic		NC_000001.10:g.(?_ 17216331)_(1727337 1_?)dup	GRCh37 (hg19)		NC_000001.10	Chr1	17,216,331	17,273,371

dbVar

Database of genomic structural variation

nsv6625678

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