A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623639



Internal ID15822212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:130625638..130650829hg38UCSC Ensembl
Outerchr12:131110183..131135374hg19UCSC Ensembl
Outerchr12:129676136..129701327hg18UCSC Ensembl
Outerchr12:129635063..129660254hg17UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg384338
hg194338
hg184338
hg174338
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509490
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)nssv623639
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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