A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv621031



Internal ID15473695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:69376498..69435237hg38UCSC Ensembl
Outerchr16:69410401..69469140hg19UCSC Ensembl
Outerchr16:67967902..68026641hg18UCSC Ensembl
Outerchr16:67967902..68026641hg17UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg383281
hg193281
hg183281
hg173281
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509629
Supporting Variants
SamplesNA15510
Known GenesCYB5B, TERF2
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)nssv621031
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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