A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16896305



Internal ID171687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:220311716..220330065hg38UCSC Ensembl
chr1:220485058..220503407hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3818350
hg1918350
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5443514
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16896305
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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