A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17995999



Internal ID20563039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:116104257..116110307hg38UCSC Ensembl
chr12:116542062..116548112hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg386051
hg196051
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6492491
Supporting Variants
Samples
Known GenesMED13L
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17995999
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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