A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17006469



Internal ID71942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:149720180..149721159hg38UCSC Ensembl
chr7:149417271..149418250hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg38980
hg19980
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5487170
Supporting Variants
Samples
Known GenesKRBA1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17006469
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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