A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216423



Internal ID22362420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:51069350..51069756hg38UCSC Ensembl
chr12:51463133..51463539hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg38407
hg19407
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14365443, nssv14365442
SamplesNA19238, NA19240
Known GenesCSRNP2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3216423
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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