A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16896791



Internal ID172009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:226070512..226077299hg38UCSC Ensembl
chr1:226258213..226265000hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg386788
hg196788
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5437328
Supporting Variants
Samples
Known GenesH3F3A, H3F3AP4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16896791
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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