A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509688



Internal ID6096995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:21063823..21190617hg19UCSC Ensembl
Outerchr18:19317821..19444615hg18UCSC Ensembl
Outerchr18:19317821..19444615hg17UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg195057
hg185057
hg175057
Variant TypeCNV Insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv623731
SamplesNA18994
Known GenesANKRD29, C18orf8, NPC1
Method
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)nsv509688
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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