A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16901746



Internal ID1956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:42848353..42848404hg38UCSC Ensembl
chr1:43314024..43314075hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5410308
Supporting Variants
Samples
Known GenesZNF691
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16901746
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001561


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