A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508037



Internal ID15479713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:149917198..149922858hg38UCSC Ensembl
Outerchr1:149888750..149894750hg19UCSC Ensembl
Outerchr1:148155374..148161374hg18UCSC Ensembl
Outerchr1:146701823..146707823hg17UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg385661
hg196001
hg186001
hg176001
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618508
SamplesCHM
Known GenesSV2A
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)nsv508037
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