A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5878505



Internal ID22653471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:241192069..241207611hg38UCSC Ensembl
chr1:241355369..241370911hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3815543
hg1915543
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17364996
Samples
Known GenesRGS7
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5878505
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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