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dbVar

Database of genomic structural variation

nsv6627005

Organism: Homo sapiens

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

Variant Calls:6
Validation:Not tested
Clinical Assertions: No
Region Size:169,762

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: 565 SVs from 59 studies. See in: genome view

Remapped(Score: Good):34,353,927-34,523,688

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6627005	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000021.9	Chr21	34,353,927	34,523,688
nsv6627005	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000021.8	Chr21	35,726,226	35,895,986

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv18282413	duplication	OSC2153	SNP array	Probe signal intensity	nssv18281782, nssv18282093, nssv18282094
nssv18285379	duplication	OSC2719	SNP array	Probe signal intensity	8
nssv18288807	duplication	OSC3203	SNP array	Probe signal intensity	nssv18287930, nssv18287931, nssv18288808
nssv18296022	duplication	OSC4644	SNP array	Probe signal intensity	nssv18295476
nssv18296331	duplication	OSC4620	SNP array	Probe signal intensity	nssv18295991, nssv18296332, nssv18295448
nssv18324762	duplication	OSC1792	SNP array	Probe signal intensity	nssv18324761, nssv18324763, nssv18325423

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18282413	Remapped	Good	NC_000021.9:g.(?_3 4353927)_(34523688 _?)dup	GRCh38.p12	First Pass	NC_000021.9	Chr21	34,353,927	34,523,688
nssv18285379	Remapped	Good	NC_000021.9:g.(?_3 4353927)_(34523688 _?)dup	GRCh38.p12	First Pass	NC_000021.9	Chr21	34,353,927	34,523,688
nssv18288807	Remapped	Good	NC_000021.9:g.(?_3 4353927)_(34523688 _?)dup	GRCh38.p12	First Pass	NC_000021.9	Chr21	34,353,927	34,523,688
nssv18296022	Remapped	Good	NC_000021.9:g.(?_3 4353927)_(34523688 _?)dup	GRCh38.p12	First Pass	NC_000021.9	Chr21	34,353,927	34,523,688
nssv18296331	Remapped	Good	NC_000021.9:g.(?_3 4353927)_(34523688 _?)dup	GRCh38.p12	First Pass	NC_000021.9	Chr21	34,353,927	34,523,688
nssv18324762	Remapped	Good	NC_000021.9:g.(?_3 4353927)_(34523688 _?)dup	GRCh38.p12	First Pass	NC_000021.9	Chr21	34,353,927	34,523,688
nssv18282413	Submitted genomic		NC_000021.8:g.(?_3 5726226)_(35895986 _?)dup	GRCh37 (hg19)		NC_000021.8	Chr21	35,726,226	35,895,986
nssv18285379	Submitted genomic		NC_000021.8:g.(?_3 5726226)_(35895986 _?)dup	GRCh37 (hg19)		NC_000021.8	Chr21	35,726,226	35,895,986
nssv18288807	Submitted genomic		NC_000021.8:g.(?_3 5726226)_(35895986 _?)dup	GRCh37 (hg19)		NC_000021.8	Chr21	35,726,226	35,895,986
nssv18296022	Submitted genomic		NC_000021.8:g.(?_3 5726226)_(35895986 _?)dup	GRCh37 (hg19)		NC_000021.8	Chr21	35,726,226	35,895,986
nssv18296331	Submitted genomic		NC_000021.8:g.(?_3 5726226)_(35895986 _?)dup	GRCh37 (hg19)		NC_000021.8	Chr21	35,726,226	35,895,986
nssv18324762	Submitted genomic		NC_000021.8:g.(?_3 5726226)_(35895986 _?)dup	GRCh37 (hg19)		NC_000021.8	Chr21	35,726,226	35,895,986

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

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