A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16897490



Internal ID172480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:228031175..228031262hg38UCSC Ensembl
chr1:228218876..228218963hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5446483
Supporting Variants
Samples
Known GenesWNT3A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16897490
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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