A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv620083



Internal ID15472752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:40260705..40429684hg38UCSC Ensembl
Outerchr15:40552906..40721883hg19UCSC Ensembl
Outerchr15:38340198..38509175hg18UCSC Ensembl
Outerchr15:38340198..38509175hg17UCSC Ensembl
Cytoband15q15.1
Allele length
AssemblyAllele length
hg38168980
hg19168978
hg18168978
hg17168978
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv510660
Supporting Variants
SamplesNA15510
Known GenesANKRD63, C15orf52, DISP2, IVD, KNSTRN, PAK6, PHGR1, PLCB2
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)nssv620083
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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