A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv622409



Internal ID15470948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:20609870..20980183hg38UCSC Ensembl
Outerchr15:20815176..21185512hg19UCSC Ensembl
Outerchr15:19075190..19450171hg18UCSC Ensembl
Outerchr15:19075190..19450171hg17UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg38370314
hg19370337
hg18374982
hg17374982
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv511040
Supporting Variants
SamplesNA10860
Known GenesCT60, CXADRP2, LOC646214, NBEAP1, NF1P2, POTEB, POTEB2
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)nssv622409
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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