A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2218247



Internal ID17820250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:201412094..201414177hg38UCSC Ensembl
Innerchr2:202276817..202278900hg19UCSC Ensembl
Innerchr2:201985062..201987145hg18UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg382084
hg192084
hg182084
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961548
Supporting Variants
SamplesHGDP00927
Known GenesTRAK2
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)nssv2218247
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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