A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509684



Internal ID15825710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:15225339..15260270hg38UCSC Ensembl
Outerchr18:15225338..15260269hg19UCSC Ensembl
Outerchr18:15215338..15250269hg18UCSC Ensembl
Outerchr18:15215338..15250269hg17UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg383166
hg193166
hg183166
hg173166
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623727
SamplesNA18994
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)nsv509684
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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