A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2195202



Internal ID17804377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:108764678..108771524hg38UCSC Ensembl
Innerchr2:109381134..109387980hg19UCSC Ensembl
Innerchr2:108747566..108754412hg18UCSC Ensembl
Cytoband2q12.3
Allele length
AssemblyAllele length
hg386847
hg196847
hg186847
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv963685
Supporting Variants
SamplesHGDP00778
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)nssv2195202
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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