A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv96n54



Internal ID22767991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:9249687..9327385hg38UCSC Ensembl
chr1:9309746..9387444hg19UCSC Ensembl
chr1:9232333..9310031hg18UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg3877699
hg1977699
hg1877699
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv545351, nsv545352, nsv545348, nsv545358, nsv545359
Samples1780854392_A
Known GenesH6PD, SPSB1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv96n54
Frequency
Sample Size17421
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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