A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv620966



Internal ID15820316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:40475797..40520066hg38UCSC Ensembl
Outerchr12:40869599..40913868hg19UCSC Ensembl
Outerchr12:39155866..39200135hg18UCSC Ensembl
Outerchr12:39155866..39200135hg17UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3817952
hg1917952
hg1817952
hg1717952
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv509465
Supporting Variants
SamplesNA15510
Known GenesMUC19
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)nssv620966
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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