A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv506958



Internal ID15823049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:118893574..118899574hg38UCSC Ensembl
Outerchr1:119436197..119442197hg19UCSC Ensembl
Outerchr1:119237720..119243720hg18UCSC Ensembl
Outerchr1:119148239..119154239hg17UCSC Ensembl
Cytoband1p12
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 Variantsnssv619250
SamplesNA10860
Known GenesTBX15
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)nsv506958
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