A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2194821



Internal ID17386196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:108721319..108764084hg38UCSC Ensembl
Innerchr2:109337775..109380540hg19UCSC Ensembl
Innerchr2:108704207..108746972hg18UCSC Ensembl
Cytoband2q12.3
Allele length
AssemblyAllele length
hg3842766
hg1942766
hg1842766
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961856
Supporting Variants
SamplesHGDP00456
Known GenesRANBP2
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)nssv2194821
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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