A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv983841



Internal ID18619033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:70469145..70472462hg38UCSC Ensembl
Innerchr14:70935862..70939179hg19UCSC Ensembl
Innerchr14:70005615..70008932hg18UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg383318
hg193318
hg183318
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1991673, nssv1991671, nssv1991668, nssv1991672, nssv1991674, nssv1991675, nssv1991670, nssv1991669, nssv1991676, nssv1991677
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesADAM20P1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv983841
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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