A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1979714



Internal ID17855166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:21233194..21234329hg38UCSC Ensembl
Innerchr14:21701353..21702488hg19UCSC Ensembl
Innerchr14:20771193..20772328hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg381136
hg191136
hg181136
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv983803
Supporting Variants
SamplesHGDP01029
Known GenesHNRNPC
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)nssv1979714
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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