A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511014



Internal ID15827036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:17763125..17892279hg38UCSC Ensembl
Outerchr12:17916059..18045213hg19UCSC Ensembl
Outerchr12:17807326..17936480hg18UCSC Ensembl
Outerchr12:17807326..17936480hg17UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg38129155
hg19129155
hg18129155
hg17129155
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618613, nssv622392, nssv621617, nssv624334
SamplesCHM, NA15510, NA18994, NA10860
Known Genes
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)nsv511014
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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