A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv968992



Internal ID18604220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:140882049..140882653hg38UCSC Ensembl
Innerchr5:140261634..140262238hg19UCSC Ensembl
Innerchr5:140241818..140242422hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg38605
hg19605
hg18605
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2379746, nssv2379747, nssv2379738, nssv2379741, nssv2379744, nssv2379743, nssv2379745, nssv2379739, nssv2379742, nssv2379740
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPCDHA1, PCDHA10, PCDHA11, PCDHA12, PCDHA13, 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)nsv968992
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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