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dbVar

Database of genomic structural variation

nsv4832934

Organism: Homo sapiens

Study:nstd200 (Abel et al. 2020)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:1,942

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: 124 SVs from 32 studies. See in: genome view

Remapped(Score: Good):34,251-36,239

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4832934	Remapped	Good	GRCh38.p12	Primary Assembly	Second Pass	NC_000009.12	Chr9	34,276 (-25, +25)	36,217 (-71, +22)
nsv4832934	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000012.11	Chr12	147,828 (-25, +25)	149,768 (-71, +22)

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16340076	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16340076	Remapped	Good	NC_000009.12:g.(34 251_34301)_(36146_ 36239)del	GRCh38.p12	Second Pass	NC_000009.12	Chr9	34,276 (-25, +25)	36,217 (-71, +22)
nssv16340076	Submitted genomic		NC_000012.11:g.(14 7803_147853)_(1496 97_149790)del	GRCh37 (hg19)		NC_000012.11	Chr12	147,828 (-25, +25)	149,768 (-71, +22)

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)
nssv16340076	<0.001	3	16834

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