A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16995672



Internal ID64550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:50417046..50422402hg38UCSC Ensembl
chr7:50484744..50490100hg19UCSC Ensembl
Cytoband7p12.2
Allele length
AssemblyAllele length
hg385357
hg195357
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5484821
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16995672
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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