A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978999



Internal ID18614202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:44268035..44273139hg38UCSC Ensembl
Innerchr2:44495174..44500278hg19UCSC Ensembl
Innerchr2:44348678..44353782hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg385105
hg195105
hg185105
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2169114, nssv2169112, nssv2169109, nssv2169116, nssv2169115, nssv2169107, nssv2169111, nssv2169113, nssv2169110, nssv2169108
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
lineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv978999
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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