A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16921243



Internal ID14937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:179488651..179488702hg38UCSC Ensembl
chr2:180353378..180353429hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg38251
hg19251
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5410296
Supporting Variants
Samples
Known GenesZNF385B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16921243
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002029


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