A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv964939



Internal ID18600174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:134156519..134157805hg38UCSC Ensembl
Innerchr5:133492210..133493496hg19UCSC Ensembl
Innerchr5:133520109..133521395hg18UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg381287
hg191287
hg181287
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2378119, nssv2378112, nssv2378116, nssv2378115, nssv2378111, nssv2378117, nssv2378118, nssv2378113, nssv2378110, nssv2378114
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesSKP1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv964939
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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