A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv712566



Internal ID15659836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:39679625..39751321hg38UCSC Ensembl
Innerchr1:40145297..40216993hg19UCSC Ensembl
Innerchr1:39917884..39989580hg18UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg3871697
hg1971697
hg1871697
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv546062
Supporting Variants
Samples
Known GenesHPCAL4, PPIE
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv712566
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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