A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2178267



Internal ID17833335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:72288816..72291605hg38UCSC Ensembl
Innerchr2:72515945..72518734hg19UCSC Ensembl
Innerchr2:72369453..72372242hg18UCSC Ensembl
Cytoband2p13.2
Allele length
AssemblyAllele length
hg382790
hg192790
hg182790
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961792
Supporting Variants
SamplesHGDP00998
Known GenesEXOC6B
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)nssv2178267
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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