A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv964957



Internal ID18600192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:141184495..141185095hg38UCSC Ensembl
Innerchr5:140564070..140564670hg19UCSC Ensembl
Innerchr5:140544254..140544854hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg38601
hg19601
hg18601
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2380288, nssv2380283, nssv2380285, nssv2380284, nssv2380290, nssv2380289, nssv2380292, nssv2380291, nssv2380287, nssv2380286
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPCDHB16
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv964957
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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