A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv617425



Internal ID15469894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:23715974..23772647hg38UCSC Ensembl
Outerchr16:23727295..23783968hg19UCSC Ensembl
Outerchr16:23634796..23691469hg18UCSC Ensembl
Outerchr16:23634796..23691469hg17UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg3856674
hg1956674
hg1856674
hg1756674
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv510681
Supporting Variants
SamplesCHM
Known GenesCHP2
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)nssv617425
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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