A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17051896



Internal ID102447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:320453..865075hg38UCSC Ensembl
chr12:429619..974241hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38544623
hg19544623
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5562745
Supporting Variants
Samples
Known GenesB4GALNT3, CCDC77, KDM5A, NINJ2, WNK1
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17051896
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000312


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