A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1990152



Internal ID17801141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:66009086..66013527hg38UCSC Ensembl
Innerchr14:66475804..66480245hg19UCSC Ensembl
Innerchr14:65545557..65549998hg18UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg384442
hg194442
hg184442
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv974350
Supporting Variants
SamplesHGDP00778
Known Genes
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)nssv1990152
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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