A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510573



Internal ID15826597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:113581578..113678939hg38UCSC Ensembl
Outerchr12:114019383..114116744hg19UCSC Ensembl
Outerchr12:112503766..112601127hg18UCSC Ensembl
Outerchr12:112482103..112579464hg17UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg3897362
hg1997362
hg1897362
hg1797362
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620053
SamplesNA15510
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)nsv510573
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer