A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1984990



Internal ID17771137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:35467865..35469832hg38UCSC Ensembl
Innerchr14:35937071..35939038hg19UCSC Ensembl
Innerchr14:35006822..35008789hg18UCSC Ensembl
Cytoband14q13.2
Allele length
AssemblyAllele length
hg381968
hg191968
hg181968
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv976330
Supporting Variants
SamplesHGDP00542
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)nssv1984990
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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