A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv963618



Internal ID18252172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:71215653..71220294hg38UCSC Ensembl
Innerchr2:71442783..71447424hg19UCSC Ensembl
Innerchr2:71296291..71300932hg18UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg384642
hg194642
hg184642
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2177187, nssv2177182, nssv2177186, nssv2177188, nssv2177190, nssv2177183, nssv2177189, nssv2177185, nssv2177184, nssv2177181
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPAIP2B
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv963618
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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