A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv963237



Internal ID18598478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:62143885..62148907hg38UCSC Ensembl
Innerchr2:62371020..62376042hg19UCSC Ensembl
Innerchr2:62224524..62229546hg18UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg385023
hg195023
hg185023
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2173964, nssv2173968, nssv2173963, nssv2173962, nssv2173970, nssv2173965, nssv2173967, nssv2173966, nssv2173969, nssv2173971
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)nsv963237
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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