A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2293548



Internal ID17819462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:126764316..126776391hg38UCSC Ensembl
Innerchr3:126483159..126495234hg19UCSC Ensembl
Innerchr3:127965849..127977924hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3812076
hg1912076
hg1812076
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv967061
Supporting Variants
SamplesHGDP00927
Known GenesCHCHD6
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)nssv2293548
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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