A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2174180



Internal ID17834269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:64887701..64901248hg38UCSC Ensembl
Innerchr2:65114835..65128382hg19UCSC Ensembl
Innerchr2:64968339..64981886hg18UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg3813548
hg1913548
hg1813548
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979011
Supporting Variants
SamplesHGDP00998
Known Genes
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)nssv2174180
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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