A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv952512



Internal ID16954699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:132192256..132711214hg38UCSC Ensembl
Outerchr12:132676801..133287800hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38518959
hg19611000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2997386
SamplesBILGI_BIOE
Known GenesFBRSL1, GALNT9, LOC100130238, LRCOL1, MIR6763, P2RX2, PGAM5, POLE, PXMP2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv952512
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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