A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv964955



Internal ID18253504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:140869337..140871057hg38UCSC Ensembl
Innerchr5:140248922..140250642hg19UCSC Ensembl
Innerchr5:140229106..140230826hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg381721
hg191721
hg181721
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2380600, nssv2380593, nssv2380591, nssv2380594, nssv2380599, nssv2380597, nssv2380598, nssv2380595, nssv2380596, nssv2380592
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPCDHA1, PCDHA10, PCDHA11, 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)nsv964955
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer