A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv621672



Internal ID15472209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:166307951..166313951hg38UCSC Ensembl
Outerchr2:167164461..167170461hg19UCSC Ensembl
Outerchr2:166872707..166878707hg18UCSC Ensembl
Outerchr2:166989968..166995968hg17UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg386001
hg196001
hg186001
hg176001
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv507046
Supporting Variants
SamplesNA10860
Known GenesSCN9A
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)nssv621672
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