A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv952207



Internal ID17301081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:89280124..89283423hg38UCSC Ensembl
Outerchr12:89673901..89677200hg19UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg383300
hg193300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2997329
SamplesBILGI_BIOE
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv952207
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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