A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978978



Internal ID18614181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:10874154..10877388hg38UCSC Ensembl
Innerchr2:11014280..11017514hg19UCSC Ensembl
Innerchr2:10931731..10934965hg18UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg383235
hg193235
hg183235
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2163266, nssv2163261, nssv2163263, nssv2163258, nssv2163262, nssv2163264, nssv2163260, nssv2163265, nssv2163257, nssv2163259
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)nsv978978
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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