A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2214380



Internal ID17852340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:178454757..178455484hg38UCSC Ensembl
Innerchr2:179319484..179320211hg19UCSC Ensembl
Innerchr2:179027730..179028457hg18UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg38728
hg19728
hg18728
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961535
Supporting Variants
SamplesHGDP01029
Known GenesDFNB59, MIR548N
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)nssv2214380
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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