A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17688889



Internal ID112555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:69744075..69745678hg38UCSC Ensembl
chr12:70137855..70139458hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg381604
hg191604
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5501720
Supporting Variants
Samples
Known GenesRAB3IP
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17688889
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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