A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18204403



Internal ID20771443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:74183071..74198155hg38UCSC Ensembl
chr1:74648755..74663839hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3815085
hg1915085
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6315784
Supporting Variants
Samples
Known GenesLRRIQ3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18204403
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.01524


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