A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18000435



Internal ID20567475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:45946662..45947048hg38UCSC Ensembl
chr12:46340445..46340831hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38387
hg19387
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6474967
Supporting Variants
Samples
Known GenesSCAF11
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18000435
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00114


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