A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2212355



Internal ID17888628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:170600663..170602407hg38UCSC Ensembl
Innerchr2:171457173..171458917hg19UCSC Ensembl
Innerchr2:171165419..171167163hg18UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg381745
hg191745
hg181745
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961529
Supporting Variants
SamplesHGDP01307
Known GenesMYO3B
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)nssv2212355
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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