A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv963213



Internal ID18598454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:17283179..17293012hg38UCSC Ensembl
Innerchr2:17464446..17474279hg19UCSC Ensembl
Innerchr2:17327927..17337760hg18UCSC Ensembl
Cytoband2p24.2
Allele length
AssemblyAllele length
hg389834
hg199834
hg189834
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2164348, nssv2164342, nssv2164339, nssv2164345, nssv2164346, nssv2164340, nssv2164347, nssv2164343, nssv2164344, nssv2164341
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)nsv963213
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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