A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509578



Internal ID15825604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:82875437..82912051hg38UCSC Ensembl
Outerchr15:83544189..83580803hg19UCSC Ensembl
Outerchr15:81341243..81371807hg18UCSC Ensembl
Outerchr15:81341243..81371807hg17UCSC Ensembl
Cytoband15q25.2
Allele length
AssemblyAllele length
hg384035
hg194035
hg184035
hg174035
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619672
SamplesNA10860
Known GenesHOMER2
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)nsv509578
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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