A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv964948



Internal ID18600183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:140801428..140803108hg38UCSC Ensembl
Innerchr5:140181013..140182693hg19UCSC Ensembl
Innerchr5:140161197..140162877hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg381681
hg191681
hg181681
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2379277, nssv2379281, nssv2379284, nssv2379283, nssv2379275, nssv2379279, nssv2379278, nssv2379282, nssv2379280, nssv2379276
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPCDHA1, PCDHA2, PCDHA3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv964948
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