A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961406



Internal ID18249966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:47161317..47163042hg38UCSC Ensembl
Innerchr2:47388456..47390181hg19UCSC Ensembl
Innerchr2:47241960..47243685hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg381726
hg191726
hg181726
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2171274, nssv2171278, nssv2171276, nssv2171270, nssv2171279, nssv2171275, nssv2171273, nssv2171272, nssv2171277, nssv2171271
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCALM2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961406
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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