A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510601



Internal ID6097373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:58130298..58191925hg19UCSC Ensembl
Outerchr12:56416565..56478192hg18UCSC Ensembl
Outerchr12:56416565..56478192hg17UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg193414
hg183414
hg173414
Variant TypeCNV Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv622659
SamplesNA18994
Known GenesAGAP2, AVIL, CDK4, CYP27B1, MARCH9, METTL1, METTL21B, TSFM, TSPAN31
Method
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)nsv510601
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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