A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv983811



Internal ID18619003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:31319518..31321837hg38UCSC Ensembl
Innerchr14:31788724..31791043hg19UCSC Ensembl
Innerchr14:30858475..30860794hg18UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg382320
hg192320
hg182320
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1980807, nssv1980799, nssv1980802, nssv1980803, nssv1980801, nssv1980806, nssv1980808, nssv1980804, nssv1980800, nssv1980805
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesHEATR5A
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv983811
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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