A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1981721



Internal ID17786920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:28673070..28673681hg38UCSC Ensembl
Innerchr14:29142276..29142887hg19UCSC Ensembl
Innerchr14:28212027..28212638hg18UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg38612
hg19612
hg18612
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv977450
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)nssv1981721
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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