A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv952515



Internal ID17301389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:133216815..133243714hg38UCSC Ensembl
Outerchr12:133793401..133820300hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3826900
hg1926900
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2998182
SamplesBILGI_BIOE
Known GenesANHX
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv952515
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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