A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16900032



Internal ID798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:247220847..247227487hg38UCSC Ensembl
chr1:247384149..247390789hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg386641
hg196641
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5440464
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16900032
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.001405


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