A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv617395



Internal ID15469864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:2130283..2157808hg38UCSC Ensembl
Outerchr12:2239449..2266974hg19UCSC Ensembl
Outerchr12:2109710..2137235hg18UCSC Ensembl
Outerchr12:2109710..2137235hg17UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3827526
hg1927526
hg1827526
hg1727526
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508663
Supporting Variants
SamplesCHM
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)nssv617395
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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