A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17055095



Internal ID104566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:7196804..7197087hg38UCSC Ensembl
chr12:7349400..7349683hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38284
hg19284
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6143805
Supporting Variants
Samples
Known GenesPEX5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17055095
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.473454


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