A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619697



Internal ID15471592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:89152681..89296203hg38UCSC Ensembl
Outerchr16:89219089..89362611hg19UCSC Ensembl
Outerchr16:87746590..87890112hg18UCSC Ensembl
Outerchr16:87746590..87890112hg17UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg387500
hg197500
hg187500
hg177500
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509638
Supporting Variants
SamplesNA10860
Known GenesACSF3, ANKRD11, CDH15, LINC00304, LOC400558, SLC22A31, ZNF778
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)nssv619697
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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