A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv964946



Internal ID18600181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:140786102..140786602hg38UCSC Ensembl
Innerchr5:140165687..140166187hg19UCSC Ensembl
Innerchr5:140145871..140146371hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg38501
hg19501
hg18501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2378290, nssv2378296, nssv2378298, nssv2378293, nssv2378292, nssv2378024, nssv2378295, nssv2378297, nssv2378294, nssv2378291
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPCDHA1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv964946
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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