A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5871669



Internal ID22646607
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 StatusM
Merged Variants
Supporting Variantsnssv17362861
Samples
Known GenesRPRD2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5871669
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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