A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1979546



Internal ID17387258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:24142834..24145405hg38UCSC Ensembl
Innerchr14:24612043..24614614hg19UCSC Ensembl
Innerchr14:23681883..23684454hg18UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg382572
hg192572
hg182572
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv974317
Supporting Variants
SamplesHGDP00456
Known GenesMIR7703, PSME2
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)nssv1979546
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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