A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17000498



Internal ID67911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:100132258..100141391hg38UCSC Ensembl
chr7:99729881..99739014hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg389134
hg199134
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5490984
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17000498
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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