A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv972917



Internal ID15920187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:126904473..127013204hg38UCSC Ensembl
Innerchr3:126623316..126732047hg19UCSC Ensembl
Innerchr3:128106006..128214737hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38108732
hg19108732
hg18108732
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv591560
Supporting Variants
Samples
Known GenesCHCHD6, PLXNA1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv972917
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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