A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17685599



Internal ID109265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:131915728..132064000hg38UCSC Ensembl
chr12:132400273..132548545hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38148273
hg19148273
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6143257
Supporting Variants
Samples
Known GenesEP400, PUS1, SNORA49, ULK1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17685599
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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