A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510675



Internal ID15478171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:5543389..5609986hg38UCSC Ensembl
Outerchr16:5593390..5659987hg19UCSC Ensembl
Outerchr16:5533391..5599988hg18UCSC Ensembl
Outerchr16:5533391..5599988hg17UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3866598
hg1966598
hg1866598
hg1766598
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622702
SamplesNA18994
Known Genes
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)nsv510675
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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