A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv97n54



Internal ID20133521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:9249687..9352728hg38UCSC Ensembl
chr1:9309746..9412787hg19UCSC Ensembl
chr1:9232333..9335374hg18UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg38103042
hg19103042
hg18103042
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv545356, nsv545360, nsv545355, nsv545361, nsv545354, nsv545357, nsv545353, nsv545349
Samples1780854556_A, HGDP00136, 1780862577_A, 1780862066_A
Known GenesH6PD, SPSB1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv97n54
Frequency
Sample Size17421
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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