A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511040



Internal ID15478534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:19840116..21178804hg38UCSC Ensembl
Outerchr15:20045369..21384133hg19UCSC Ensembl
Outerchr15:18305383..19648792hg18UCSC Ensembl
Outerchr15:18305383..19648792hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg381338689
hg191338765
hg181343410
hg171343410
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv621631, nssv622409
SamplesNA15510, NA10860
Known GenesCHEK2P2, CT60, CXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, 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)nsv511040
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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