A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv470297



Internal ID6060144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:58133256..58202419hg19UCSC Ensembl
Innerchr12:56419523..56488686hg18UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Gain
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv546949
SamplesHGDP00866
Known GenesAGAP2, AVIL, CDK4, CYP27B1, MARCH9, METTL1, METTL21B, TSFM, TSPAN31
Method
AnalysisOverlapping CNVs were merged. The positions are based on the farthest SNPs observed anomg any individuals with the CNV.
PlatformIllumina HumanHap550 Genotyping BeadChip v1 + v3
CommentsSingle-copy duplication
ReferenceJakobsson et al 2008
Pubmed ID18288195
Accession Number(s)nsv470297
Frequency
Sample Size443
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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