A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1984244



Internal ID17836047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:39215459..39220964hg38UCSC Ensembl
Innerchr14:39684663..39690168hg19UCSC Ensembl
Innerchr14:38754414..38759919hg18UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg385506
hg195506
hg185506
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv977460
Supporting Variants
SamplesHGDP00998
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)nssv1984244
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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