A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18001254



Internal ID20568294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:50365056..50369496hg38UCSC Ensembl
chr12:50758839..50763279hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg384441
hg194441
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6459581
Supporting Variants
Samples
Known GenesFAM186A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18001254
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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