A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17715002



Internal ID138668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:80401630..80403996hg38UCSC Ensembl
chr17:78375430..78377796hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg382367
hg192367
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5521544
Supporting Variants
Samples
Known GenesLOC100294362
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17715002
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000624


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