A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv620601



Internal ID15819953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:20569405..20575405hg38UCSC Ensembl
Outerchr16:20580727..20586727hg19UCSC Ensembl
Outerchr16:20488228..20494228hg18UCSC Ensembl
Outerchr16:20488228..20494228hg17UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg386001
hg196001
hg186001
hg176001
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv507808
Supporting Variants
SamplesNA15510
Known GenesACSM2B
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)nssv620601
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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