A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv620714



Internal ID15820066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:39825612..39831612hg38UCSC Ensembl
Outerchr2:40052752..40058752hg19UCSC Ensembl
Outerchr2:39906256..39912256hg18UCSC Ensembl
Outerchr2:39964403..39970403hg17UCSC Ensembl
Cytoband2p22.1
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 Variantsnsv507006
Supporting Variants
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)nssv620714
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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