A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv968159



Internal ID18256701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:31821148..31825119hg38UCSC Ensembl
Innerchr5:31821255..31825226hg19UCSC Ensembl
Innerchr5:31857012..31860983hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg383972
hg193972
hg183972
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2352010, nssv2352009, nssv2352008, nssv2352003, nssv2352001, nssv2352007, nssv2352004, nssv2352006, nssv2352002, nssv2352005
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPDZD2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv968159
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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