A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979124



Internal ID18614327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:131461196..131549886hg38UCSC Ensembl
Innerchr2:132218769..132307459hg19UCSC Ensembl
Innerchr2:131935239..132023929hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg3888691
hg1988691
hg1888691
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2202591, nssv2202586, nssv2202589, nssv2202582, nssv2202588, nssv2202590, nssv2202587, nssv2202583, nssv2202584, nssv2202585
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCCDC74A, LOC150776, MIR4784, MZT2A, RNU6-81P, TUBA3D
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv979124
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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