A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv963612



Internal ID18598853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:68116254..68119895hg38UCSC Ensembl
Innerchr2:68343386..68347027hg19UCSC Ensembl
Innerchr2:68196890..68200531hg18UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg383642
hg193642
hg183642
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2175643, nssv2175647, nssv2175649, nssv2175648, nssv2175645, nssv2175642, nssv2175641, nssv2175646, nssv2175644, nssv2175640
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)nsv963612
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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