A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2193838



Internal ID17438972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:108650780..108681257hg38UCSC Ensembl
Innerchr2:109267236..109297713hg19UCSC Ensembl
Innerchr2:108633668..108664145hg18UCSC Ensembl
Cytoband2q12.3
Allele length
AssemblyAllele length
hg3830478
hg1930478
hg1830478
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961854
Supporting Variants
SamplesHGDP00665
Known GenesLIMS1
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)nssv2193838
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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