A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv617852



Internal ID15817007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:32605884..32611884hg38UCSC Ensembl
Outerchr13:33180021..33186021hg19UCSC Ensembl
Outerchr13:32078021..32084021hg18UCSC Ensembl
Outerchr13:32078021..32084021hg17UCSC Ensembl
Cytoband13q13.1
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 Variantsnsv507688
Supporting Variants
SamplesCHM
Known GenesPDS5B
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)nssv617852
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