A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16901637



Internal ID1889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:39565475..39565566hg38UCSC Ensembl
chr1:40031147..40031238hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg3892
hg1992
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5429071
Supporting Variants
Samples
Known GenesPABPC4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16901637
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000937


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