A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv952476



Internal ID16954663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:110020796..110023095hg38UCSC Ensembl
Outerchr12:110458601..110460900hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg382300
hg192300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2997346
SamplesBILGI_BIOE
Known GenesANKRD13A
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv952476
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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