A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17683864



Internal ID107530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:23075332..23075714hg38UCSC Ensembl
chr1:23401825..23402207hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg38383
hg19383
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5415209
Supporting Variants
Samples
Known GenesKDM1A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17683864
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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