A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3224585



Internal ID22367970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:50872645..50872707hg38UCSC Ensembl
chr12:51266428..51266490hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1842n152
Supporting Variantsnssv14421587
SamplesHG00514
Known GenesTMPRSS12
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3224585
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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