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dbVar

Database of genomic structural variation

nsv3318981

Organism: Homo sapiens

Study:nstd163 (Gupta et al. 2020)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37 (hg19)

Variant Calls:5
Validation:Not tested
Clinical Assertions: No
Region Size:137

Publication(s):Gupta et al. 2020

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: 209 SVs from 36 studies. See in: genome view

Remapped(Score: Perfect):109,019-109,155

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv3318981	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000018.10	Chr18	109,019	109,155
nsv3318981	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000018.9	Chr18	109,019	109,155

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity
nssv14471997	deletion	NA18621	Sequencing	Sequence alignment	Heterozygous
nssv14471998	deletion	NA18631	Sequencing	Sequence alignment	Heterozygous
nssv14471999	deletion	NA18638	Sequencing	Sequence alignment	Homozygous
nssv14472000	deletion	NA18541	Sequencing	Sequence alignment	Heterozygous
nssv14472001	deletion	NA18624	Sequencing	Sequence alignment	Homozygous

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv14471997	Remapped	Perfect	NC_000018.10:g.109 019_109155del137	GRCh38.p12	First Pass	NC_000018.10	Chr18	109,019	109,155
nssv14471998	Remapped	Perfect	NC_000018.10:g.109 019_109155del137	GRCh38.p12	First Pass	NC_000018.10	Chr18	109,019	109,155
nssv14471999	Remapped	Perfect	NC_000018.10:g.109 019_109155del137	GRCh38.p12	First Pass	NC_000018.10	Chr18	109,019	109,155
nssv14472000	Remapped	Perfect	NC_000018.10:g.109 019_109155del137	GRCh38.p12	First Pass	NC_000018.10	Chr18	109,019	109,155
nssv14472001	Remapped	Perfect	NC_000018.10:g.109 019_109155del137	GRCh38.p12	First Pass	NC_000018.10	Chr18	109,019	109,155
nssv14471997	Submitted genomic		NC_000018.9:g.1090 19_109155del137	GRCh37 (hg19)		NC_000018.9	Chr18	109,019	109,155
nssv14471998	Submitted genomic		NC_000018.9:g.1090 19_109155del137	GRCh37 (hg19)		NC_000018.9	Chr18	109,019	109,155
nssv14471999	Submitted genomic		NC_000018.9:g.1090 19_109155del137	GRCh37 (hg19)		NC_000018.9	Chr18	109,019	109,155
nssv14472000	Submitted genomic		NC_000018.9:g.1090 19_109155del137	GRCh37 (hg19)		NC_000018.9	Chr18	109,019	109,155
nssv14472001	Submitted genomic		NC_000018.9:g.1090 19_109155del137	GRCh37 (hg19)		NC_000018.9	Chr18	109,019	109,155

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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