A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1176048



Internal ID15528735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:60402952..60535829hg38UCSC Ensembl
Innerchr13:60977086..61109963hg19UCSC Ensembl
Innerchr13:59875087..60007964hg18UCSC Ensembl
Cytoband13q21.2
Allele length
AssemblyAllele length
hg38132878
hg19132878
hg18132878
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv561863
Supporting Variants
SamplesHGDP00682
Known GenesTDRD3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1176048
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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