A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16902830



Internal ID2699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:57606185..57606185hg38UCSC Ensembl
chr1:58071857..58071857hg19UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg38211
hg19211
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5413559
Supporting Variants
Samples
Known GenesDAB1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16902830
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.371978


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