A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17690901



Internal ID114567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:124700922..124701091hg38UCSC Ensembl
chr12:125185468..125185637hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38170
hg19170
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5507990
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17690901
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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