A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv617940



Internal ID15817095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:65185342..65191342hg38UCSC Ensembl
Outerchr18:62852578..62858578hg19UCSC Ensembl
Outerchr18:61003558..61009558hg18UCSC Ensembl
Outerchr18:61003558..61009558hg17UCSC Ensembl
Cytoband18q22.1
Allele length
AssemblyAllele length
hg386001
hg196001
hg186001
hg176001
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv507877
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)nssv617940
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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