A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17684761



Internal ID108427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:117692453..117697189hg38UCSC Ensembl
chr12:118130258..118134994hg19UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg384737
hg194737
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5500276
Supporting Variants
Samples
Known GenesKSR2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17684761
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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