A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv621566



Internal ID15474228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:151671688..151740604hg38UCSC Ensembl
Outerchr3:151389476..151458392hg19UCSC Ensembl
Outerchr3:152872166..152941082hg18UCSC Ensembl
Outerchr3:152872174..152941090hg17UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg3868917
hg1968917
hg1868917
hg1768917
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv511102
Supporting Variants
SamplesNA15510
Known GenesAADACL2, MIR548H2
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)nssv621566
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex1
Frequencyn/a


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