A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17690746



Internal ID114412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122658975..122660512hg38UCSC Ensembl
chr12:123143522..123145059hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381538
hg191538
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5497472
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17690746
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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