A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv621433



Internal ID15474095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:11272295..11278295hg38UCSC Ensembl
Outerchr16:11366152..11372152hg19UCSC Ensembl
Outerchr16:11273653..11279653hg18UCSC Ensembl
Outerchr16:11273653..11279653hg17UCSC Ensembl
Cytoband16p13.13
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 Variantsnsv510412
Supporting Variants
SamplesNA15510
Known GenesPRM2, PRM3
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)nssv621433
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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