A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv962008



Internal ID18597254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:131603226..131605241hg38UCSC Ensembl
Innerchr2:132360799..132362814hg19UCSC Ensembl
Innerchr2:132077269..132079284hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg382016
hg192016
hg182016
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2671682, nssv2671676, nssv2671681, nssv2671683, nssv2671679, nssv2671680, nssv2671684, nssv2671678, nssv2671685, nssv2671677
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPOTEKP
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv962008
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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