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dbVar

Database of genomic structural variation

nsv5314357

Organism: Homo sapiens

Study:nstd204 (Chen et al. 2021)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:170

Publication(s):Chen et al. 2021

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: 107 SVs from 28 studies. See in: genome view

Submitted genomic55,770,129-55,770,315

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5314357	Submitted genomic		GRCh38.p13	Primary Assembly		NC_000012.12	Chr12	55,770,138 (-9, +8)	55,770,307 (-9, +8)
nsv5314357	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000012.11	Chr12	56,163,922 (-9, +8)	56,164,091 (-9, +8)

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16747803	deletion	Sequencing	Split read and paired-end mapping

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16747803	Submitted genomic		NC_000012.12:g.(55 770129_55770146)_( 55770298_55770315) del	GRCh38.p13		NC_000012.12	Chr12	55,770,138 (-9, +8)	55,770,307 (-9, +8)
nssv16747803	Remapped	Perfect	NC_000012.11:g.(56 163913_56163930)_( 56164082_56164099) del	GRCh37.p13	First Pass	NC_000012.11	Chr12	56,163,922 (-9, +8)	56,164,091 (-9, +8)

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Complete genotype and/or allele frequency data for this study can be found on dbVar's FTP site.

Genotype Information

Variant Call ID	Allele Frequency (AF)
nssv16747803	<0.001

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