A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16992536



Internal ID62493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:5928785..5929416hg38UCSC Ensembl
chr7:5968416..5969047hg19UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg38632
hg19632
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5460798
Supporting Variants
Samples
Known GenesRSPH10B, RSPH10B2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16992536
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00502


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