A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv952470



Internal ID16954657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:106579123..106587622hg38UCSC Ensembl
Outerchr12:106972901..106981400hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg388500
hg198500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2997339
SamplesBILGI_BIOE
Known GenesLOC100287944, RFX4
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv952470
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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