A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509593



Internal ID15825619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:4074552..4138127hg38UCSC Ensembl
Outerchr16:4124553..4188128hg19UCSC Ensembl
Outerchr16:4064554..4128129hg18UCSC Ensembl
Outerchr16:4064554..4128129hg17UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg384354
hg194354
hg184354
hg174354
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619680
SamplesNA10860
Known GenesADCY9
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)nsv509593
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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