A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509608



Internal ID15477106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:28449797..28632895hg38UCSC Ensembl
Outerchr16:28461118..28644216hg19UCSC Ensembl
Outerchr16:28368619..28551717hg18UCSC Ensembl
Outerchr16:28368619..28551717hg17UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg386426
hg196426
hg186426
hg176426
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623693, nssv623692
SamplesNA18994
Known GenesAPOBR, CCDC101, CLN3, IL27, NUPR1, SULT1A1, SULT1A2
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)nsv509608
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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