A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1176347



Internal ID15873914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:29153921..29172357hg38UCSC Ensembl
Innerchr13:29728058..29746494hg19UCSC Ensembl
Innerchr13:28626058..28644494hg18UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg3818437
hg1918437
hg1818437
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv561391
Supporting Variants
SamplesHGDP00433
Known GenesMTUS2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1176347
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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