A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18203100



Internal ID20770140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:40514161..40516485hg38UCSC Ensembl
chr1:40979833..40982157hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg382325
hg192325
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6322307
Supporting Variants
Samples
Known GenesEXO5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18203100
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00015


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