A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2208347



Internal ID17886598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:148595177..148599426hg38UCSC Ensembl
Innerchr2:149352746..149356995hg19UCSC Ensembl
Innerchr2:149069216..149073465hg18UCSC Ensembl
Cytoband2q23.1
Allele length
AssemblyAllele length
hg384250
hg194250
hg184250
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961896
Supporting Variants
SamplesHGDP01307
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)nssv2208347
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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