A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619612



Internal ID15471507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:108570758..108590278hg38UCSC Ensembl
Outerchr12:108964534..108984054hg19UCSC Ensembl
Outerchr12:107488663..107508183hg18UCSC Ensembl
Outerchr12:107467000..107486520hg17UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg385503
hg195503
hg185503
hg175503
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509475
Supporting Variants
SamplesNA10860
Known GenesTMEM119
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)nssv619612
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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