A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17434978



Internal ID22492848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:80463802..80463888hg38UCSC Ensembl
chr7:80093118..80093204hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg3887
hg1987
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5918346
Supporting Variants
Samples
Known GenesGNAT3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17434978
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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