A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1148688



Internal ID15876610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:110191841..110199461hg38UCSC Ensembl
Innerchr13:110844188..110851808hg19UCSC Ensembl
Innerchr13:109642189..109649809hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg387621
hg197621
hg187621
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv563103
Supporting Variants
SamplesHGDP00868
Known GenesCOL4A1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1148688
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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