A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2197493



Internal ID17800273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:112278675..112287367hg38UCSC Ensembl
Innerchr2:113036252..113044944hg19UCSC Ensembl
Innerchr2:112752723..112761415hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg388693
hg198693
hg188693
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv963704
Supporting Variants
SamplesHGDP00778
Known GenesZC3H6
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2197493
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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