A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547556



Internal ID15988279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:111980473..112014154hg38UCSC Ensembl
Innerchr1:112523095..112556776hg19UCSC Ensembl
Innerchr1:112324618..112358299hg18UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg3833682
hg1933682
hg1833682
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1173118
SamplesHGDP00814
Known GenesKCND3, LOC643355
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547556
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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