A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17057674



Internal ID106303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:56603102..56603187hg38UCSC Ensembl
chr12:56996886..56996971hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg3886
hg1986
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5501450
Supporting Variants
Samples
Known GenesBAZ2A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17057674
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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