A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2203896



Internal ID17422877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:143087816..143100395hg38UCSC Ensembl
Innerchr2:143845385..143857964hg19UCSC Ensembl
Innerchr2:143561855..143574434hg18UCSC Ensembl
Cytoband2q22.2
Allele length
AssemblyAllele length
hg3812580
hg1912580
hg1812580
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv963732
Supporting Variants
SamplesHGDP00542
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)nssv2203896
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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