A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509449



Internal ID15476947
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
hg387936
hg197936
hg187936
hg177936
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619524, nssv620922, nssv623583
SamplesNA18994, NA15510, NA10860
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)nsv509449
Frequency
Sample Size4
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer