A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509574



Internal ID15825600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:70417457..70615192hg38UCSC Ensembl
Outerchr15:70709796..70907531hg19UCSC Ensembl
Outerchr15:68496850..68694585hg18UCSC Ensembl
Outerchr15:68496850..68694585hg17UCSC Ensembl
Cytoband15q23
Allele length
AssemblyAllele length
hg388955
hg198955
hg188955
hg178955
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623678
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)nsv509574
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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