A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509607



Internal ID15477105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:24866208..24928527hg38UCSC Ensembl
Outerchr16:24877529..24939848hg19UCSC Ensembl
Outerchr16:24785030..24847349hg18UCSC Ensembl
Outerchr16:24785030..24847349hg17UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg383690
hg193690
hg183690
hg173690
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619684
SamplesNA10860
Known GenesARHGAP17, SLC5A11
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)nsv509607
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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