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dbVar

Database of genomic structural variation

nsv4973391

Organism: Homo sapiens

Study:nstd200 (Abel et al. 2020)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:2,191

Publication(s):Abel 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: 472 SVs from 43 studies. See in: genome view

Submitted genomic137,257,614-137,259,808

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4973391	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000009.12	Chr9	137,257,616 (-2, +116)	137,259,806 (-117, +2)
nsv4973391	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000009.11	Chr9	140,152,068 (-2, +116)	140,154,258 (-117, +2)

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16513027	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16513027	Submitted genomic		NC_000009.12:g.(13 7257614_137257732) _(137259689_137259 808)del	GRCh38 (hg38)		NC_000009.12	Chr9	137,257,616 (-2, +116)	137,259,806 (-117, +2)
nssv16513027	Remapped	Perfect	NC_000009.11:g.(14 0152066_140152184) _(140154141_140154 260)del	GRCh37.p13	First Pass	NC_000009.11	Chr9	140,152,068 (-2, +116)	140,154,258 (-117, +2)

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype Information

Variant Call ID	Allele Frequency (AF)	Allele Count (AC)	Allele Number (AN)
nssv16513027	<0.001	1	29246

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