A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510676



Internal ID15478172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:14708642..14832232hg38UCSC Ensembl
Outerchr16:14802499..14926089hg19UCSC Ensembl
Outerchr16:14710000..14833590hg18UCSC Ensembl
Outerchr16:14710000..14833590hg17UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg38123591
hg19123591
hg18123591
hg17123591
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618931
SamplesNA10860
Known GenesABCC6P2, NPIPA2, NPIPA3
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)nsv510676
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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