A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv980726



Internal ID18269240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:133969985..133973370hg38UCSC Ensembl
Innerchr5:133305676..133309061hg19UCSC Ensembl
Innerchr5:133333575..133336960hg18UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg383386
hg193386
hg183386
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2377126, nssv2377129, nssv2377133, nssv2377130, nssv2377131, nssv2377127, nssv2377128, nssv2377125, nssv2377132, nssv2377124
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesVDAC1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv980726
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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