A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1979416



Internal ID17733558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:23988989..23989671hg38UCSC Ensembl
Innerchr14:24458198..24458880hg19UCSC Ensembl
Innerchr14:23528038..23528720hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38683
hg19683
hg18683
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv976322
Supporting Variants
SamplesHGDP00456
Known GenesDHRS4L2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv1979416
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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