A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509929



Internal ID15825955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:129144246..129150246hg38UCSC Ensembl
Outerchr4:130065401..130071401hg19UCSC Ensembl
Outerchr4:130284851..130290851hg18UCSC Ensembl
Outerchr4:130423006..130429006hg17UCSC Ensembl
Cytoband4q28.2
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 Variantsnssv618185
SamplesCHM
Known Genes
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)nsv509929
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