A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511042



Internal ID15827064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:22390537..23224543hg38UCSC Ensembl
Outerchr15:22648525..23482559hg19UCSC Ensembl
Outerchr15:20199889..21034000hg18UCSC Ensembl
Outerchr15:20199889..21034000hg17UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg38834007
hg19834035
hg18834112
hg17834112
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv621632, nssv622411
SamplesNA15510, NA10860
Known GenesCYFIP1, GOLGA6L1, GOLGA8DP, GOLGA8EP, GOLGA8I, HERC2P2, HERC2P7, LOC283683, MIR4509-1, MIR4509-2, MIR4509-3, NIPA1, NIPA2, TUBGCP5, WHAMMP3
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)nsv511042
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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