A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5919294



Internal ID22694516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:695352..697280hg38UCSC Ensembl
chr7:734989..736917hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg381929
hg191929
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17442816
Samples
Known GenesPRKAR1B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5919294
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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