A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623130



Internal ID15821703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:18871189..18877189hg38UCSC Ensembl
Outerchr13:19445329..19451329hg19UCSC Ensembl
Outerchr13:18343329..18349329hg18UCSC Ensembl
Outerchr13:18343329..18349329hg17UCSC Ensembl
Cytoband13q11
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 Variantsnsv507685
Supporting Variants
SamplesNA18994
Known GenesANKRD20A9P
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)nssv623130
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