A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17353692



Internal ID22579361
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:240932863..240934067hg38UCSC Ensembl
chr1:241096163..241097367hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg381205
hg191205
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5871580
Supporting Variants
Samples
Known GenesRGS7
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17353692
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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