A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv964954



Internal ID18253503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:140856140..140858351hg38UCSC Ensembl
Innerchr5:140235725..140237936hg19UCSC Ensembl
Innerchr5:140215909..140218120hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg382212
hg192212
hg182212
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2380501, nssv2380496, nssv2380494, nssv2380500, nssv2380502, nssv2380497, nssv2380503, nssv2380495, nssv2380498, nssv2380499
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPCDHA1, PCDHA10, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv964954
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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