A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1982968



Internal ID17728872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:31109921..31113375hg38UCSC Ensembl
Innerchr14:31579127..31582581hg19UCSC Ensembl
Innerchr14:30648878..30652332hg18UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg383455
hg193455
hg183455
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv983810
Supporting Variants
SamplesHGDP00456
Known GenesHECTD1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv1982968
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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