A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545964



Internal ID16333373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:33957611..34455474hg38UCSC Ensembl
Innerchr1:34423212..34921075hg19UCSC Ensembl
Innerchr1:34195799..34693662hg18UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg38497864
hg19497864
hg18497864
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1173812
SamplesHGDP00983
Known GenesC1orf94, CSMD2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545964
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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