A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv983850



Internal ID18272356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:90404359..90405217hg38UCSC Ensembl
Innerchr14:90870703..90871561hg19UCSC Ensembl
Innerchr14:89940456..89941314hg18UCSC Ensembl
Cytoband14q32.11
Allele length
AssemblyAllele length
hg38859
hg19859
hg18859
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1995130, nssv1995122, nssv1995124, nssv1995126, nssv1995129, nssv1995121, nssv1995123, nssv1995125, nssv1995128, nssv1995127
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCALM1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv983850
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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