A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16904307



Internal ID3694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:72115592..72199186hg38UCSC Ensembl
chr1:72581275..72664869hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3883595
hg1983595
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5428454
Supporting Variants
Samples
Known GenesNEGR1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16904307
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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