A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510693



Internal ID15478189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:85718091..85771939hg38UCSC Ensembl
Outerchr16:85751697..85805545hg19UCSC Ensembl
Outerchr16:84309198..84363046hg18UCSC Ensembl
Outerchr16:84309198..84363046hg17UCSC Ensembl
Cytoband16q24.1
Allele length
AssemblyAllele length
hg3853849
hg1953849
hg1853849
hg1753849
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620092
SamplesNA15510
Known GenesC16orf74, MIR1910, MIR7851
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)nsv510693
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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