A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv620922



Internal ID15473587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:2226489..2278671hg38UCSC Ensembl
Outerchr12:2335655..2387837hg19UCSC Ensembl
Outerchr12:2205916..2258098hg18UCSC Ensembl
Outerchr12:2205916..2258098hg17UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg384162
hg194162
hg184162
hg174162
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509449
Supporting Variants
SamplesNA15510
Known GenesCACNA1C, CACNA1C-IT3
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)nssv620922
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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