A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2188610



Internal ID17801675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:95416330..95487144hg38UCSC Ensembl
Innerchr2:96082078..96152892hg19UCSC Ensembl
Innerchr2:95445805..95516619hg18UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg3870815
hg1970815
hg1870815
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961450
Supporting Variants
SamplesHGDP00778
Known GenesTRIM43B
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)nssv2188610
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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