A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2199399



Internal ID17885992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:113434787..113479374hg38UCSC Ensembl
Innerchr2:114192364..114236951hg19UCSC Ensembl
Innerchr2:113908834..113953421hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg3844588
hg1944588
hg1844588
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv961492
Supporting Variants
SamplesHGDP01307
Known GenesCBWD2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2199399
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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