A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510419



Internal ID15477917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:53094174..53100174hg38UCSC Ensembl
Outerchr16:53128086..53134086hg19UCSC Ensembl
Outerchr16:51685587..51691587hg18UCSC Ensembl
Outerchr16:51685587..51691587hg17UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg386001
hg196001
hg186001
hg176001
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv621437, nssv624178, nssv622261
SamplesNA18994, NA15510, NA10860
Known GenesCHD9
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)nsv510419
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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