A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509562



Internal ID15825588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:28409931..28427090hg38UCSC Ensembl
Outerchr15:28655077..28672236hg19UCSC Ensembl
Outerchr15:26328672..26345831hg18UCSC Ensembl
Outerchr15:26328672..26345831hg17UCSC Ensembl
Cytoband15q13.1
Allele length
AssemblyAllele length
hg3831882
hg1931882
hg1831882
hg1731882
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623671, nssv621006
SamplesNA15510, NA18994
Known GenesMIR4509-1, MIR4509-2, MIR4509-3
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)nsv509562
Frequency
Sample Size4
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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