A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17004259



Internal ID70474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:117201963..117202260hg38UCSC Ensembl
chr7:116842017..116842314hg19UCSC Ensembl
Cytoband7q31.2
Allele length
AssemblyAllele length
hg38298
hg19298
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5475526
Supporting Variants
Samples
Known GenesST7, ST7-OT3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17004259
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.689822


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