A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509682



Internal ID15825708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:4501792..4521824hg38UCSC Ensembl
Outerchr18:4501792..4521824hg19UCSC Ensembl
Outerchr18:4491792..4511824hg18UCSC Ensembl
Outerchr18:4491792..4511824hg17UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg383672
hg193672
hg183672
hg173672
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623726
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)nsv509682
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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