A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1153330



Internal ID15532026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:32106978..32151013hg38UCSC Ensembl
Innerchr5:32107084..32151119hg19UCSC Ensembl
Innerchr5:32142841..32186876hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3844036
hg1944036
hg1844036
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv597773
Supporting Variants
SamplesHGDP01246
Known GenesGOLPH3, PDZD2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1153330
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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