A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16964756



Internal ID43812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:33991677..33993705hg38UCSC Ensembl
chr5:33991782..33993810hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg382029
hg192029
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5456190
Supporting Variants
Samples
Known GenesAMACR, C1QTNF3-AMACR
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16964756
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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