A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4020749



Internal ID22082380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:32106974..32158349hg38UCSC Ensembl
Outerchr5:32102625..32170181hg38UCSC Ensembl
Innerchr5:32107080..32158455hg19UCSC Ensembl
Outerchr5:32102731..32170287hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3867557
hg1967557
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1156328
Supporting Variants
Samples
Known GenesGOLPH3, PDZD2
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nssv4020749
Frequency
Sample Size131
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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