A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17357643



Internal ID22583312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:123400219..123401339hg38UCSC Ensembl
chr12:123884766..123885886hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381121
hg191121
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5930215
Supporting Variants
Samples
Known GenesSETD8
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17357643
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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