A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979156



Internal ID18614359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:186260530..186261652hg38UCSC Ensembl
Innerchr2:187125257..187126379hg19UCSC Ensembl
Innerchr2:186833502..186834624hg18UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg381123
hg191123
hg181123
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2215313, nssv2215306, nssv2215312, nssv2215308, nssv2215307, nssv2215309, nssv2215305, nssv2215310, nssv2215304, nssv2215311
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv979156
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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