A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17432754



Internal ID22490624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:22161452..22161501hg38UCSC Ensembl
chr7:22201070..22201119hg19UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5909762
Supporting Variants
Samples
Known GenesRAPGEF5
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17432754
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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