A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv952481



Internal ID17301355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:113127196..113131395hg38UCSC Ensembl
Outerchr12:113565001..113569200hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg384200
hg194200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2997351
SamplesBILGI_BIOE
Known GenesRASAL1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv952481
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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