A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511027



Internal ID15478521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:113835942..113905880hg38UCSC Ensembl
Outerchr13:114538915..114608853hg19UCSC Ensembl
Outerchr13:113505090..113575028hg18UCSC Ensembl
Outerchr13:113505090..113575028hg17UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3869939
hg1969939
hg1869939
hg1769939
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622401, nssv621625, nssv624345
SamplesNA18994, NA15510, NA10860
Known GenesGAS6, GAS6-AS1, GAS6-AS2, LINC00452
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)nsv511027
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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