A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1152546



Internal ID15506568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:142103779..142353090hg38UCSC Ensembl
Innerchr3:141822621..142071932hg19UCSC Ensembl
Innerchr3:143305311..143554622hg18UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg38249312
hg19249312
hg18249312
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv591914
Supporting Variants
Samples1780854038_A
Known GenesGK5, TFDP2, XRN1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1152546
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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