A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1990287



Internal ID17438258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:66757249..66762291hg38UCSC Ensembl
Innerchr14:67223967..67229009hg19UCSC Ensembl
Innerchr14:66293720..66298762hg18UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg385043
hg195043
hg185043
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv976348
Supporting Variants
SamplesHGDP00665
Known GenesGPHN
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)nssv1990287
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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