A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16897544



Internal ID172523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:228653789..228670973hg38UCSC Ensembl
chr1:228789536..228806720hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg3817185
hg1917185
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5447960
Supporting Variants
Samples
Known GenesRHOU
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16897544
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001562


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