A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508923



Internal ID15476421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:52036445..52099461hg38UCSC Ensembl
Outerchr3:52070461..52133477hg19UCSC Ensembl
Outerchr3:52045501..52108517hg18UCSC Ensembl
Outerchr3:52045501..52108517hg17UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg386016
hg196016
hg186016
hg176016
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv621203
SamplesNA15510
Known GenesDUSP7, LINC00696, POC1A
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)nsv508923
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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