A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2172255



Internal ID17734712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:63619362..63649996hg38UCSC Ensembl
Innerchr2:63846496..63877130hg19UCSC Ensembl
Innerchr2:63700000..63730634hg18UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg3830635
hg1930635
hg1830635
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv963239
Supporting Variants
SamplesHGDP00456
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)nssv2172255
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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