A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16902698



Internal ID2618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:48048035..48048527hg38UCSC Ensembl
chr1:48513707..48514199hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg38493
hg19493
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5418769
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16902698
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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