A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16901529



Internal ID1822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:40212908..40212959hg38UCSC Ensembl
chr1:40678580..40678631hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5402125
Supporting Variants
Samples
Known GenesRLF
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16901529
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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