A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511062



Internal ID15827084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:42450334..42489415hg38UCSC Ensembl
Outerchr18:40030299..40069380hg19UCSC Ensembl
Outerchr18:38284297..38323378hg18UCSC Ensembl
Outerchr18:38284297..38323378hg17UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg3839082
hg1939082
hg1839082
hg1739082
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618628
SamplesCHM
Known GenesLINC00907
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)nsv511062
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex1
Frequencyn/a


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