A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1982197



Internal ID17755518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:34734707..34741852hg38UCSC Ensembl
Innerchr14:35203913..35211058hg19UCSC Ensembl
Innerchr14:34273664..34280809hg18UCSC Ensembl
Cytoband14q13.1
Allele length
AssemblyAllele length
hg387146
hg197146
hg187146
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv976327
Supporting Variants
SamplesHGDP00521
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)nssv1982197
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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