A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16904248



Internal ID3650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:71253086..71265862hg38UCSC Ensembl
chr1:71718769..71731545hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3812777
hg1912777
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5431931
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16904248
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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