A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18164413



Internal ID20731453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:118625546..118630381hg38UCSC Ensembl
chr8:119637785..119642620hg19UCSC Ensembl
Cytoband8q24.12
Allele length
AssemblyAllele length
hg384836
hg194836
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6428379
Supporting Variants
Samples
Known GenesSAMD12-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18164413
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0001


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