A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv974368



Internal ID18262893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:93222343..93225699hg38UCSC Ensembl
Innerchr14:93688689..93692045hg19UCSC Ensembl
Innerchr14:92758442..92761798hg18UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg383357
hg193357
hg183357
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1996400, nssv1996397, nssv1996401, nssv1996405, nssv1996399, nssv1996404, nssv1996396, nssv1996403, nssv1996402, nssv1996398
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesUBR7
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv974368
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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