A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597773



Internal ID16038496
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 StatusM
Merged Variantsdgv9714n54
Supporting Variantsnssv1153323, nssv1153330, nssv1153320, nssv1153322, nssv1153334, nssv1153328, nssv1153324, nssv1153319, nssv1153321, nssv1153329, nssv1153326, nssv1153333, nssv1153332, nssv1153327, nssv1153318, nssv1153331, nssv1153325
SamplesHGDP01340, HGDP01247, HGDP01212, HGDP00001, HGDP01401, HGDP00597, HGDP01184, HGDP00755, HGDP00750, HGDP00878, HGDP01187, HGDP01246, HGDP00029, HGDP01349, HGDP01156, HGDP00025, HGDP01147
Known GenesGOLPH3, PDZD2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597773
Frequency
Sample Size17421
Observed Gain17
Observed Loss0
Observed Complex0
Frequencyn/a


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