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dbVar

Database of genomic structural variation

nsv4371194

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:329,507

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: 2317 SVs from 93 studies. See in: genome view

Remapped(Score: Good):22,175,787-22,505,293

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4371194	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000014.9	Chr14	22,175,787	22,505,293
nsv4371194	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000014.8	Chr14	22,643,684	22,974,280

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv15611968	copy number gain	1-0639-003	SNP array	Genotyping	19
nssv15642612	copy number gain	15-1133-002	SNP array	Genotyping	14
nssv15694540	copy number gain	OCD98-1525	SNP array	Genotyping	23

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15611968	Remapped	Good	NC_000014.9:g.(?_2 2175787)_(22505293 _?)dup	GRCh38.p12	First Pass	NC_000014.9	Chr14	22,175,787	22,505,293
nssv15642612	Remapped	Good	NC_000014.9:g.(?_2 2175787)_(22505293 _?)dup	GRCh38.p12	First Pass	NC_000014.9	Chr14	22,175,787	22,505,293
nssv15694540	Remapped	Good	NC_000014.9:g.(?_2 2175787)_(22505293 _?)dup	GRCh38.p12	First Pass	NC_000014.9	Chr14	22,175,787	22,505,293
nssv15611968	Submitted genomic		NC_000014.8:g.(?_2 2643684)_(22974280 _?)dup	GRCh37 (hg19)		NC_000014.8	Chr14	22,643,684	22,974,280
nssv15642612	Submitted genomic		NC_000014.8:g.(?_2 2643684)_(22974280 _?)dup	GRCh37 (hg19)		NC_000014.8	Chr14	22,643,684	22,974,280
nssv15694540	Submitted genomic		NC_000014.8:g.(?_2 2643684)_(22974280 _?)dup	GRCh37 (hg19)		NC_000014.8	Chr14	22,643,684	22,974,280

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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