A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961779



Internal ID18597025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:57766023..57766645hg38UCSC Ensembl
Innerchr2:57993158..57993780hg19UCSC Ensembl
Innerchr2:57846662..57847284hg18UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg38623
hg19623
hg18623
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2172827, nssv2172828, nssv2172825, nssv2172830, nssv2172832, nssv2172829, nssv2172823, nssv2172831, nssv2172826, nssv2172824
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)nsv961779
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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