A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1997351



Internal ID17769151
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:99972602..99974778hg38UCSC Ensembl
Innerchr14:100438939..100441115hg19UCSC Ensembl
Innerchr14:99508692..99510868hg18UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg382177
hg192177
hg182177
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv976369
Supporting Variants
SamplesHGDP00542
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)nssv1997351
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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