A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv964900



Internal ID18600136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:79283564..79285128hg38UCSC Ensembl
Innerchr5:78579387..78580951hg19UCSC Ensembl
Innerchr5:78615143..78616707hg18UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg381565
hg191565
hg181565
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2365598, nssv2365601, nssv2365599, nssv2365605, nssv2365597, nssv2365604, nssv2365603, nssv2365606, nssv2365602, nssv2365600
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesJMY
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv964900
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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