A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2221348



Internal ID17786526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:216784536..216786874hg38UCSC Ensembl
Innerchr2:217649259..217651597hg19UCSC Ensembl
Innerchr2:217357504..217359842hg18UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg382339
hg192339
hg182339
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961559
Supporting Variants
SamplesHGDP00665
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)nssv2221348
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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