A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16904919



Internal ID4096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:48729674..48734722hg38UCSC Ensembl
chr1:49195346..49200394hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg385049
hg195049
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5415622
Supporting Variants
Samples
Known GenesAGBL4, BEND5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16904919
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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