A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv980734



Internal ID18269248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:140841022..140843672hg38UCSC Ensembl
Innerchr5:140220607..140223257hg19UCSC Ensembl
Innerchr5:140200791..140203441hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg382651
hg192651
hg182651
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2379515, nssv2379510, nssv2379516, nssv2379511, nssv2379513, nssv2379509, nssv2379512, nssv2379514, nssv2379517, nssv2379508
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPCDHA1, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv980734
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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