A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16993243



Internal ID62948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:23141576..23142794hg38UCSC Ensembl
chr7:23181195..23182413hg19UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg381219
hg191219
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5455225
Supporting Variants
Samples
Known GenesKLHL7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16993243
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.002342


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