A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2198296



Internal ID17537794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:112980370..112984527hg38UCSC Ensembl
Innerchr2:113737947..113742104hg19UCSC Ensembl
Innerchr2:113454418..113458575hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg384158
hg194158
hg184158
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961489
Supporting Variants
SamplesHGDP01307
Known GenesIL36G
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)nssv2198296
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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