A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1148686



Internal ID15532387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:110104317..110154143hg38UCSC Ensembl
Innerchr13:110756664..110806490hg19UCSC Ensembl
Innerchr13:109554665..109604491hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3849827
hg1949827
hg1849827
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv563100
Supporting Variants
SamplesHGDP01303
Known GenesCOL4A1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1148686
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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