A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv621053



Internal ID15820403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:78447982..78544574hg38UCSC Ensembl
Outerchr18:76207982..76304574hg19UCSC Ensembl
Outerchr18:74308970..74405562hg18UCSC Ensembl
Outerchr18:74308970..74405562hg17UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg385038
hg195038
hg185038
hg175038
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509703
Supporting Variants
SamplesNA15510
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)nssv621053
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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