A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv591561



Internal ID16032284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:126904473..127052770hg38UCSC Ensembl
Innerchr3:126623316..126771613hg19UCSC Ensembl
Innerchr3:128106006..128254303hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38148298
hg19148298
hg18148298
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8559n54
Supporting Variantsnssv972918
Samples
Known GenesCHCHD6, PLXNA1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv591561
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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