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dbVar

Database of genomic structural variation

nsv6625287

Organism: Homo sapiens

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

Variant Calls:4
Validation:Not tested
Clinical Assertions: No
Region Size:61,469

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: 692 SVs from 76 studies. See in: genome view

Remapped(Score: Good):53,429,042-53,490,510

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6625287	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000019.10	Chr19	53,429,042	53,490,510
nsv6625287	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000019.9	Chr19	53,932,295	53,993,764

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv18293168	duplication	OSC0039	SNP array	Probe signal intensity	nssv18293467, nssv18293135
nssv18295879	duplication	OSC0464	SNP array	Probe signal intensity	7
nssv18305631	duplication	OSC0676	SNP array	Probe signal intensity	7
nssv18323254	duplication	OSC1372	SNP array	Probe signal intensity	nssv18322707, nssv18322977, nssv18323253

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18293168	Remapped	Good	NC_000019.10:g.(?_ 53429042)_(5349051 0_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	53,429,042	53,490,510
nssv18295879	Remapped	Good	NC_000019.10:g.(?_ 53429042)_(5349051 0_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	53,429,042	53,490,510
nssv18305631	Remapped	Good	NC_000019.10:g.(?_ 53429042)_(5349051 0_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	53,429,042	53,490,510
nssv18323254	Remapped	Good	NC_000019.10:g.(?_ 53429042)_(5349051 0_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	53,429,042	53,490,510
nssv18293168	Submitted genomic		NC_000019.9:g.(?_5 3932295)_(53993764 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,932,295	53,993,764
nssv18295879	Submitted genomic		NC_000019.9:g.(?_5 3932295)_(53993764 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,932,295	53,993,764
nssv18305631	Submitted genomic		NC_000019.9:g.(?_5 3932295)_(53993764 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,932,295	53,993,764
nssv18323254	Submitted genomic		NC_000019.9:g.(?_5 3932295)_(53993764 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,932,295	53,993,764

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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