A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979028



Internal ID18614231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:79086285..79086895hg38UCSC Ensembl
Innerchr2:79313411..79314021hg19UCSC Ensembl
Innerchr2:79166919..79167529hg18UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg38611
hg19611
hg18611
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2180340, nssv2180337, nssv2180336, nssv2180335, nssv2180341, nssv2180338, nssv2180342, nssv2180339, nssv2180334, nssv2180343
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesREG1B
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv979028
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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