A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14421587



Internal ID22159726
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 StatusS
Merged Variantsnsv3224585
Supporting Variants
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)nssv14421587
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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