A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv618127



Internal ID15815932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:48660149..48687052hg38UCSC Ensembl
Outerchr18:46186520..46213423hg19UCSC Ensembl
Outerchr18:44440518..44467421hg18UCSC Ensembl
Outerchr18:44440518..44467421hg17UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg383447
hg193447
hg183447
hg173447
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509694
Supporting Variants
SamplesCHM
Known GenesCTIF, MIR4743
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)nssv618127
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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