A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv618954



Internal ID15818758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:40672087..40685303hg38UCSC Ensembl
Outerchr18:38252051..38265267hg19UCSC Ensembl
Outerchr18:36506049..36519265hg18UCSC Ensembl
Outerchr18:36506049..36519265hg17UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg3813217
hg1913217
hg1813217
hg1713217
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv510736
Supporting Variants
SamplesNA10860
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)nssv618954
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer