A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv618389



Internal ID15816195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:78530263..78536263hg38UCSC Ensembl
Outerchr13:79104398..79110398hg19UCSC Ensembl
Outerchr13:78002399..78008399hg18UCSC Ensembl
Outerchr13:78002399..78008399hg17UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg386001
hg196001
hg186001
hg176001
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv510351
Supporting Variants
SamplesCHM
Known GenesRNF219-AS1
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)nssv618389
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer