A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18202391



Internal ID20769431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:234606101..234611500hg38UCSC Ensembl
chr1:234741847..234747246hg19UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg385400
hg195400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6331302
Supporting Variants
Samples
Known GenesIRF2BP2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18202391
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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