A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1996403



Internal ID17502976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:93222343..93225699hg38UCSC Ensembl
Innerchr14:93688689..93692045hg19UCSC Ensembl
Innerchr14:92758442..92761798hg18UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg383357
hg193357
hg183357
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv974368
Supporting Variants
SamplesHGDP01029
Known GenesUBR7
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)nssv1996403
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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