A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv976317



Internal ID18264837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:21351643..21352731hg38UCSC Ensembl
Innerchr14:21819802..21820890hg19UCSC Ensembl
Innerchr14:20889642..20890730hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg381089
hg191089
hg181089
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1979874, nssv1979876, nssv1979870, nssv1979871, nssv1979869, nssv1979873, nssv1979877, nssv1979868, nssv1979872, nssv1979875
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesSUPT16H
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv976317
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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