A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16892680



Internal ID169296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:178922965..178927749hg38UCSC Ensembl
chr1:178892100..178896884hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg384785
hg194785
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5425700
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16892680
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00281


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