A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961540



Internal ID18596786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:187819168..187827581hg38UCSC Ensembl
Innerchr2:188683895..188692308hg19UCSC Ensembl
Innerchr2:188392140..188400553hg18UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg388414
hg198414
hg188414
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2215896, nssv2215897, nssv2215895, nssv2215901, nssv2215899, nssv2215902, nssv2215900, nssv2215893, nssv2215894, nssv2215898
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)nsv961540
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer