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dbVar

Database of genomic structural variation

nsv4372641

Organism: Homo sapiens

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

Variant Calls:6
Validation:Not tested
Clinical Assertions: No
Region Size:36,890

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: 751 SVs from 80 studies. See in: genome view

Remapped(Score: Perfect):42,522,721-42,559,610

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4372641	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000022.11	Chr22	42,522,721	42,559,610
nsv4372641	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000022.10	Chr22	42,918,727	42,955,616

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv15673201	copy number gain	9-0036-001	SNP array	Genotyping	24
nssv15678535	copy number loss	206760	SNP array	Genotyping	17
nssv15685367	copy number gain	OCD118-S_1712	SNP array	Genotyping	23
nssv15689785	copy number gain	OCD1149-8961133	SNP array	Genotyping	18
nssv15693183	copy number gain	OCD87-896883	SNP array	Genotyping	19
nssv15694371	copy number gain	OCD87-896881	SNP array	Genotyping	27

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15673201	Remapped	Perfect	NC_000022.11:g.(?_ 42522721)_(4255961 0_?)dup	GRCh38.p12	First Pass	NC_000022.11	Chr22	42,522,721	42,559,610
nssv15678535	Remapped	Perfect	NC_000022.11:g.(?_ 42522721)_(4255961 0_?)del	GRCh38.p12	First Pass	NC_000022.11	Chr22	42,522,721	42,559,610
nssv15685367	Remapped	Perfect	NC_000022.11:g.(?_ 42522721)_(4255961 0_?)dup	GRCh38.p12	First Pass	NC_000022.11	Chr22	42,522,721	42,559,610
nssv15689785	Remapped	Perfect	NC_000022.11:g.(?_ 42522721)_(4255961 0_?)dup	GRCh38.p12	First Pass	NC_000022.11	Chr22	42,522,721	42,559,610
nssv15693183	Remapped	Perfect	NC_000022.11:g.(?_ 42522721)_(4255961 0_?)dup	GRCh38.p12	First Pass	NC_000022.11	Chr22	42,522,721	42,559,610
nssv15694371	Remapped	Perfect	NC_000022.11:g.(?_ 42522721)_(4255961 0_?)dup	GRCh38.p12	First Pass	NC_000022.11	Chr22	42,522,721	42,559,610
nssv15673201	Submitted genomic		NC_000022.10:g.(?_ 42918727)_(4295561 6_?)dup	GRCh37 (hg19)		NC_000022.10	Chr22	42,918,727	42,955,616
nssv15678535	Submitted genomic		NC_000022.10:g.(?_ 42918727)_(4295561 6_?)del	GRCh37 (hg19)		NC_000022.10	Chr22	42,918,727	42,955,616
nssv15685367	Submitted genomic		NC_000022.10:g.(?_ 42918727)_(4295561 6_?)dup	GRCh37 (hg19)		NC_000022.10	Chr22	42,918,727	42,955,616
nssv15689785	Submitted genomic		NC_000022.10:g.(?_ 42918727)_(4295561 6_?)dup	GRCh37 (hg19)		NC_000022.10	Chr22	42,918,727	42,955,616
nssv15693183	Submitted genomic		NC_000022.10:g.(?_ 42918727)_(4295561 6_?)dup	GRCh37 (hg19)		NC_000022.10	Chr22	42,918,727	42,955,616
nssv15694371	Submitted genomic		NC_000022.10:g.(?_ 42918727)_(4295561 6_?)dup	GRCh37 (hg19)		NC_000022.10	Chr22	42,918,727	42,955,616

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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