A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv617500



Internal ID15816655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:85935141..85965164hg38UCSC Ensembl
Outerchr1:86400824..86430847hg19UCSC Ensembl
Outerchr1:86173412..86203435hg18UCSC Ensembl
Outerchr1:86112845..86142868hg17UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg3830024
hg1930024
hg1830024
hg1730024
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508371
Supporting Variants
SamplesCHM
Known GenesCOL24A1
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)nssv617500
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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