A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17839767



Internal ID22023410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:122840446..122840446hg38UCSC Ensembl
chr7:122480500..122480500hg19UCSC Ensembl
Cytoband7q31.32
Allele length
AssemblyAllele length
hg38246
hg19246
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6239669
Supporting Variants
Samples
Known GenesCADPS2
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17839767
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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