A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv964828



Internal ID18253378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:31847465..31848159hg38UCSC Ensembl
Innerchr5:31847571..31848265hg19UCSC Ensembl
Innerchr5:31883328..31884022hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg38695
hg19695
hg18695
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2352201, nssv2352200, nssv2352197, nssv2352203, nssv2352204, nssv2352199, nssv2352202, nssv2352198, nssv2352196, nssv2352195
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesPDZD2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv964828
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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