A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508666



Internal ID15480342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:13374569..13407104hg38UCSC Ensembl
Outerchr12:13527503..13560038hg19UCSC Ensembl
Outerchr12:13418770..13451305hg18UCSC Ensembl
Outerchr12:13418770..13451305hg17UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg3832536
hg1932536
hg1832536
hg1732536
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv617397, nssv620038, nssv618846
SamplesCHM, NA15510, NA10860
Known GenesC12orf36
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)nsv508666
Frequency
Sample Size4
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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