A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979149



Internal ID18267666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:173871609..173872109hg38UCSC Ensembl
Innerchr2:174736337..174736837hg19UCSC Ensembl
Innerchr2:174444583..174445083hg18UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38501
hg19501
hg18501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2211076, nssv2211075, nssv2211081, nssv2211080, nssv2211078, nssv2211077, nssv2211072, nssv2211073, nssv2211074, nssv2211079
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)nsv979149
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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