A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1983646



Internal ID17784814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:36010304..36012406hg38UCSC Ensembl
Innerchr14:36479510..36481612hg19UCSC Ensembl
Innerchr14:35549261..35551363hg18UCSC Ensembl
Cytoband14q13.2
Allele length
AssemblyAllele length
hg382103
hg192103
hg182103
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv974326
Supporting Variants
SamplesHGDP00665
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)nssv1983646
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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