A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1976899



Internal ID17803923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:20526637..20528862hg38UCSC Ensembl
Innerchr14:20994796..20997021hg19UCSC Ensembl
Innerchr14:20064636..20066861hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg382226
hg192226
hg182226
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv974311
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)nssv1976899
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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