A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17853183



Internal ID22036826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:52448716..52448716hg38UCSC Ensembl
chr1:52914388..52914388hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6253283
Supporting Variants
Samples
Known GenesZCCHC11
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17853183
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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