A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5869828



Internal ID22644763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:6963459..6965897hg38UCSC Ensembl
chr2:7103590..7106028hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg382439
hg192439
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17405250
Samples
Known GenesRNF144A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5869828
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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