A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510201



Internal ID15826227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:110799022..110805022hg38UCSC Ensembl
Outerchr9:113561302..113567302hg19UCSC Ensembl
Outerchr9:112601123..112607123hg18UCSC Ensembl
Outerchr9:110640857..110646857hg17UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg386001
hg196001
hg186001
hg176001
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618317, nssv621362
SamplesCHM, NA15510
Known GenesMUSK
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)nsv510201
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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