A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623586



Internal ID15475473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:2458012..2573460hg38UCSC Ensembl
Outerchr12:2567178..2682626hg19UCSC Ensembl
Outerchr12:2437439..2552887hg18UCSC Ensembl
Outerchr12:2437439..2552887hg17UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg384079
hg194079
hg184079
hg174079
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509450
Supporting Variants
SamplesNA18994
Known GenesCACNA1C
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)nssv623586
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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