A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv561212



Internal ID16001935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:19735717..19868739hg38UCSC Ensembl
Innerchr13:20309857..20442879hg19UCSC Ensembl
Innerchr13:19207857..19340879hg18UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg38133023
hg19133023
hg18133023
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3071n54
Supporting Variantsnssv806050
Samples
Known GenesPSPC1, ZMYM5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv561212
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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