A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17854875



Internal ID22038518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:61127874..61127874hg38UCSC Ensembl
chr1:61593546..61593546hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38169
hg19169
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6253934
Supporting Variants
Samples
Known GenesNFIA
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17854875
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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