A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2199476



Internal ID17852892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:113479374..113481503hg38UCSC Ensembl
Innerchr2:114236951..114239080hg19UCSC Ensembl
Innerchr2:113953421..113955550hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg382130
hg192130
hg182130
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv963707
Supporting Variants
SamplesHGDP01029
Known GenesCBWD2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2199476
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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