A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17846186



Internal ID22029829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:123977480..123977480hg38UCSC Ensembl
chr12:124462027..124462027hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38225
hg19225
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6248671
Supporting Variants
Samples
Known GenesZNF664, ZNF664-FAM101A
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17846186
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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