A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv964950



Internal ID18600185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:140821732..140822325hg38UCSC Ensembl
Innerchr5:140201317..140201910hg19UCSC Ensembl
Innerchr5:140181501..140182094hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg38594
hg19594
hg18594
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2380002, nssv2380003, nssv2380001, nssv2380005, nssv2380000, nssv2380004, nssv2379997, nssv2379998, nssv2379999, nssv2380006
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPCDHA1, PCDHA2, PCDHA3, PCDHA4, PCDHA5
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv964950
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