A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1148689



Internal ID15533118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:110627655..110657270hg38UCSC Ensembl
Innerchr13:111280002..111309617hg19UCSC Ensembl
Innerchr13:110078003..110107618hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3829616
hg1929616
hg1829616
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv563125
Supporting Variants
SamplesNINDS_111
Known GenesCARKD, CARS2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1148689
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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