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dbVar

Database of genomic structural variation

nsv4377551

Organism: Homo sapiens

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

Variant Calls:5
Validation:Not tested
Clinical Assertions: No
Region Size:48,405

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: 1128 SVs from 96 studies. See in: genome view

Remapped(Score: Perfect):196,859,515-196,907,919

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4377551	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	196,859,515	196,907,919
nsv4377551	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	196,828,645	196,877,049

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv15618084	copy number loss	1-0883-003	SNP array	Genotyping	18
nssv15668582	copy number loss	7-0202-003	SNP array	Genotyping	32
nssv15669486	copy number loss	7-0263-003	SNP array	Genotyping	24
nssv15684089	copy number gain	OCD148-KJ-1488	SNP array	Genotyping	20
nssv15684108	copy number gain	OCD148-KJ-273	SNP array	Genotyping	17

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15618084	Remapped	Perfect	NC_000001.11:g.(?_ 196859515)_(196907 919_?)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	196,859,515	196,907,919
nssv15668582	Remapped	Perfect	NC_000001.11:g.(?_ 196859515)_(196907 919_?)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	196,859,515	196,907,919
nssv15669486	Remapped	Perfect	NC_000001.11:g.(?_ 196859515)_(196907 919_?)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	196,859,515	196,907,919
nssv15684089	Remapped	Perfect	NC_000001.11:g.(?_ 196859515)_(196907 919_?)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	196,859,515	196,907,919
nssv15684108	Remapped	Perfect	NC_000001.11:g.(?_ 196859515)_(196907 919_?)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	196,859,515	196,907,919
nssv15618084	Submitted genomic		NC_000001.10:g.(?_ 196828645)_(196877 049_?)del	GRCh37 (hg19)		NC_000001.10	Chr1	196,828,645	196,877,049
nssv15668582	Submitted genomic		NC_000001.10:g.(?_ 196828645)_(196877 049_?)del	GRCh37 (hg19)		NC_000001.10	Chr1	196,828,645	196,877,049
nssv15669486	Submitted genomic		NC_000001.10:g.(?_ 196828645)_(196877 049_?)del	GRCh37 (hg19)		NC_000001.10	Chr1	196,828,645	196,877,049
nssv15684089	Submitted genomic		NC_000001.10:g.(?_ 196828645)_(196877 049_?)dup	GRCh37 (hg19)		NC_000001.10	Chr1	196,828,645	196,877,049
nssv15684108	Submitted genomic		NC_000001.10:g.(?_ 196828645)_(196877 049_?)dup	GRCh37 (hg19)		NC_000001.10	Chr1	196,828,645	196,877,049

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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