A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16892971



Internal ID169476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:178327111..178328086hg38UCSC Ensembl
chr1:178296246..178297221hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38976
hg19976
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5414542
Supporting Variants
Samples
Known GenesRASAL2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16892971
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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