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dbVar

Database of genomic structural variation

nsv4368849

Organism: Homo sapiens

Study:nstd173 (Zarrei et al. 2019)
Variant Type:copy number variation
Method Type:SNP array
Submitted on:GRCh37 (hg19)

Variant Calls:3
Validation:Not tested
Clinical Assertions: No
Region Size:23,641

Publication(s):Zarrei et al. 2019

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: 223 SVs from 44 studies. See in: genome view

Remapped(Score: Perfect):185,138,721-185,162,361

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4368849	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	185,138,721	185,162,361
nsv4368849	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	185,107,853	185,131,493

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv15642845	copy number gain	15-1111-001	SNP array	Genotyping	18
nssv15643388	copy number gain	16-1003-004	SNP array	Genotyping	20
nssv15644174	copy number gain	16-1003-001	SNP array	Genotyping	22

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15642845	Remapped	Perfect	NC_000001.11:g.(?_ 185138721)_(185162 361_?)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	185,138,721	185,162,361
nssv15643388	Remapped	Perfect	NC_000001.11:g.(?_ 185138721)_(185162 361_?)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	185,138,721	185,162,361
nssv15644174	Remapped	Perfect	NC_000001.11:g.(?_ 185138721)_(185162 361_?)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	185,138,721	185,162,361
nssv15642845	Submitted genomic		NC_000001.10:g.(?_ 185107853)_(185131 493_?)dup	GRCh37 (hg19)		NC_000001.10	Chr1	185,107,853	185,131,493
nssv15643388	Submitted genomic		NC_000001.10:g.(?_ 185107853)_(185131 493_?)dup	GRCh37 (hg19)		NC_000001.10	Chr1	185,107,853	185,131,493
nssv15644174	Submitted genomic		NC_000001.10:g.(?_ 185107853)_(185131 493_?)dup	GRCh37 (hg19)		NC_000001.10	Chr1	185,107,853	185,131,493

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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