A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17447192



Internal ID22505062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:5774269..5774342hg38UCSC Ensembl
chr7:5813900..5813973hg19UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5916087
Supporting Variants
Samples
Known GenesRNF216
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17447192
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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