A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16901495



Internal ID1802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:39013835..39039835hg38UCSC Ensembl
chr1:39479507..39505507hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg3826001
hg1926001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5427969
Supporting Variants
Samples
Known GenesNDUFS5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16901495
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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