A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1173005



Internal ID15877346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:65469811..65534351hg38UCSC Ensembl
Innerchr1:65935494..66000034hg19UCSC Ensembl
Innerchr1:65708082..65772622hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3864541
hg1964541
hg1864541
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv546439
Supporting Variants
SamplesHGDP00972
Known GenesLEPR
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1173005
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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