A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979027



Internal ID18614230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:74944672..74955488hg38UCSC Ensembl
Innerchr2:75171799..75182615hg19UCSC Ensembl
Innerchr2:75025307..75036123hg18UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3810817
hg1910817
hg1810817
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2177919, nssv2177912, nssv2177915, nssv2177918, nssv2177916, nssv2177917, nssv2177914, nssv2177913, nssv2177911, nssv2177910
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)nsv979027
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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