A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17690630



Internal ID114296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:106601200..106601270hg38UCSC Ensembl
chr12:106994978..106995048hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5497876
Supporting Variants
Samples
Known GenesLOC100287944, RFX4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17690630
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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