A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv618076



Internal ID15817231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:74962952..74972191hg38UCSC Ensembl
Outerchr9:77577868..77587107hg19UCSC Ensembl
Outerchr9:76767688..76776927hg18UCSC Ensembl
Outerchr9:74807422..74816661hg17UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg383260
hg193260
hg183260
hg173260
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509303
Supporting Variants
SamplesCHM
Known Genes
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)nssv618076
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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