A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2221496



Internal ID17770195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:218353836..218354530hg38UCSC Ensembl
Innerchr2:219218559..219219253hg19UCSC Ensembl
Innerchr2:218926803..218927497hg18UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38695
hg19695
hg18695
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961563
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)nssv2221496
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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