A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509696



Internal ID15825722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:51675549..51701749hg38UCSC Ensembl
Outerchr18:49201919..49228119hg19UCSC Ensembl
Outerchr18:47455917..47482117hg18UCSC Ensembl
Outerchr18:47455917..47482117hg17UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg385511
hg195511
hg185511
hg175511
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623735, nssv621051
SamplesNA15510, NA18994
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)nsv509696
Frequency
Sample Size4
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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