A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623296



Internal ID15821869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:234687902..234693901hg38UCSC Ensembl
Outerchr1:234823648..234829648hg19UCSC Ensembl
Outerchr1:232890271..232896271hg18UCSC Ensembl
Outerchr1:231130383..231136383hg17UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg386000
hg196001
hg186001
hg176001
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv506984
Supporting Variants
SamplesNA18994
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)nssv623296
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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