A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510310



Internal ID15477808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:93688214..93694214hg38UCSC Ensembl
Outerchr12:94081990..94087990hg19UCSC Ensembl
Outerchr12:92606121..92612121hg18UCSC Ensembl
Outerchr12:92584458..92590458hg17UCSC Ensembl
Cytoband12q22
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 Variantsnssv618373
SamplesCHM
Known GenesCRADD
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)nsv510310
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