A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv618546



Internal ID15469666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:113115632..113121632hg38UCSC Ensembl
Outerchr2:113873209..113879209hg19UCSC Ensembl
Outerchr2:113589680..113595680hg18UCSC Ensembl
Outerchr2:113589440..113595440hg17UCSC Ensembl
Cytoband2q13
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 Variantsnsv508102
Supporting Variants
SamplesCHM
Known GenesIL1RN
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)nssv618546
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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