A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2204157



Internal ID17732122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:130610736..130691652hg38UCSC Ensembl
Innerchr2:131368309..131449225hg19UCSC Ensembl
Innerchr2:131084779..131165695hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg3880917
hg1980917
hg1880917
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961510
Supporting Variants
SamplesHGDP00456
Known GenesCYP4F30P, POTEJ
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)nssv2204157
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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