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dbVar

Database of genomic structural variation

nsv6624675

Organism: Homo sapiens

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

Variant Calls:2
Validation:Not tested
Clinical Assertions: No
Region Size:14,835

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: 240 SVs from 51 studies. See in: genome view

Remapped(Score: Perfect):12,417,037-12,431,871

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6624675	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000019.10	Chr19	12,417,037	12,431,871
nsv6624675	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000019.9	Chr19	12,527,851	12,542,685

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv18282561	deletion	OSC2039	SNP array	Probe signal intensity	6
nssv18300833	deletion	OSC5457	SNP array	Probe signal intensity	nssv18300484, nssv18300485, nssv18301115

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18282561	Remapped	Perfect	NC_000019.10:g.(?_ 12417037)_(1243187 1_?)del	GRCh38.p12	First Pass	NC_000019.10	Chr19	12,417,037	12,431,871
nssv18300833	Remapped	Perfect	NC_000019.10:g.(?_ 12417037)_(1243187 1_?)del	GRCh38.p12	First Pass	NC_000019.10	Chr19	12,417,037	12,431,871
nssv18282561	Submitted genomic		NC_000019.9:g.(?_1 2527851)_(12542685 _?)del	GRCh37 (hg19)		NC_000019.9	Chr19	12,527,851	12,542,685
nssv18300833	Submitted genomic		NC_000019.9:g.(?_1 2527851)_(12542685 _?)del	GRCh37 (hg19)		NC_000019.9	Chr19	12,527,851	12,542,685

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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