A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961550



Internal ID18250110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:202229416..202233820hg38UCSC Ensembl
Innerchr2:203094139..203098543hg19UCSC Ensembl
Innerchr2:202802384..202806788hg18UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg384405
hg194405
hg184405
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2216736, nssv2216739, nssv2216732, nssv2216738, nssv2216737, nssv2216730, nssv2216731, nssv2216733, nssv2216735, nssv2216734
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesSUMO1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961550
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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