A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17440652



Internal ID22498522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:107083323..107089064hg38UCSC Ensembl
chr7:106723768..106729509hg19UCSC Ensembl
Cytoband7q22.3
Allele length
AssemblyAllele length
hg385742
hg195742
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5911254
Supporting Variants
Samples
Known GenesPRKAR2B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17440652
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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