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dbVar

Database of genomic structural variation

nsv6620631

Organism: Homo sapiens

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

Variant Calls:3
Validation:Not tested
Clinical Assertions: No
Region Size:119,150

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: 2675 SVs from 106 studies. See in: genome view

Remapped(Score: Perfect):46,172,086-46,291,235

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6620631	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000010.11	Chr10	46,172,086	46,291,235
nsv6620631	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000010.10	Chr10	47,543,322	47,662,471

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv18285395	duplication	OSC0283	SNP array	Probe signal intensity	5
nssv18286517	duplication	OSC0298	SNP array	Probe signal intensity	5
nssv18292953	deletion	OSC4150	SNP array	Probe signal intensity	10

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18285395	Remapped	Perfect	NC_000010.11:g.(?_ 46172086)_(4629123 5_?)dup	GRCh38.p12	First Pass	NC_000010.11	Chr10	46,172,086	46,291,235
nssv18286517	Remapped	Perfect	NC_000010.11:g.(?_ 46172086)_(4629123 5_?)dup	GRCh38.p12	First Pass	NC_000010.11	Chr10	46,172,086	46,291,235
nssv18292953	Remapped	Perfect	NC_000010.11:g.(?_ 46172086)_(4629123 5_?)del	GRCh38.p12	First Pass	NC_000010.11	Chr10	46,172,086	46,291,235
nssv18285395	Submitted genomic		NC_000010.10:g.(?_ 47543322)_(4766247 1_?)dup	GRCh37 (hg19)		NC_000010.10	Chr10	47,543,322	47,662,471
nssv18286517	Submitted genomic		NC_000010.10:g.(?_ 47543322)_(4766247 1_?)dup	GRCh37 (hg19)		NC_000010.10	Chr10	47,543,322	47,662,471
nssv18292953	Submitted genomic		NC_000010.10:g.(?_ 47543322)_(4766247 1_?)del	GRCh37 (hg19)		NC_000010.10	Chr10	47,543,322	47,662,471

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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