A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979138



Internal ID18267655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:157877569..157880073hg38UCSC Ensembl
Innerchr2:158734081..158736585hg19UCSC Ensembl
Innerchr2:158442327..158444831hg18UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg382505
hg192505
hg182505
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2208603, nssv2208602, nssv2208598, nssv2208601, nssv2208597, nssv2208604, nssv2208605, nssv2208599, nssv2208596, nssv2208600
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)nsv979138
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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