A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961856



Internal ID18250416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:108721319..108764084hg38UCSC Ensembl
Innerchr2:109337775..109380540hg19UCSC Ensembl
Innerchr2:108704207..108746972hg18UCSC Ensembl
Cytoband2q12.3
Allele length
AssemblyAllele length
hg3842766
hg1942766
hg1842766
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2194824, nssv2194819, nssv2194823, nssv2194825, nssv2194818, nssv2194817, nssv2194820, nssv2194822, nssv2194816, nssv2194821
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesRANBP2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961856
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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