A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509109



Internal ID15476607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:179174499..179248395hg38UCSC Ensembl
Outerchr5:178601500..178675396hg19UCSC Ensembl
Outerchr5:178534106..178608002hg18UCSC Ensembl
Outerchr5:178534106..178608002hg17UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg383111
hg193111
hg183111
hg173111
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619437
SamplesNA10860
Known GenesADAMTS2
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)nsv509109
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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