A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17003053



Internal ID69655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:104861252..104866308hg38UCSC Ensembl
chr7:104501699..104506755hg19UCSC Ensembl
Cytoband7q22.3
Allele length
AssemblyAllele length
hg385057
hg195057
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5484965
Supporting Variants
Samples
Known GenesLHFPL3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17003053
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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