A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17854876



Internal ID22038519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:61370625..61370625hg38UCSC Ensembl
chr1:61836297..61836297hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6253945
Supporting Variants
Samples
Known GenesNFIA
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17854876
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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