A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16904833



Internal ID4041
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:42396191..42396271hg38UCSC Ensembl
chr1:42861862..42861942hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg3881
hg1981
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5414164
Supporting Variants
Samples
Known GenesRIMKLA
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16904833
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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