A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508208



Internal ID15479884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:4012241..4069026hg38UCSC Ensembl
Outerchr3:4053925..4110710hg19UCSC Ensembl
Outerchr3:4028925..4085710hg18UCSC Ensembl
Outerchr3:4028925..4085710hg17UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg3856786
hg1956786
hg1856786
hg1756786
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv617473
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)nsv508208
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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