A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508266



Internal ID15479942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:191346423..191365848hg38UCSC Ensembl
Outerchr3:191064212..191083637hg19UCSC Ensembl
Outerchr3:192546906..192566331hg18UCSC Ensembl
Outerchr3:192546914..192566339hg17UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg3819426
hg1919426
hg1819426
hg1719426
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618732
SamplesNA10860
Known GenesCCDC50
MethodOptical mapping
AnalysisSingle-molecule optical maps were assembled into genome-wide consensus maps. These consensus maps were compared to a restriction map generated from the NCBI b35 human genome reference sequence.
PlatformOptical Mapping
Comments
ReferenceTeague_et_al_2010
Pubmed ID20534489
Accession Number(s)nsv508266
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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