A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17362861



Internal ID22588530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:150373312..150373677hg38UCSC Ensembl
chr1:150345788..150346153hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38366
hg19366
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5871669
Supporting Variants
Samples
Known GenesRPRD2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17362861
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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