A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18202120



Internal ID20769160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:9706388..9742803hg38UCSC Ensembl
chr1:9766446..9802861hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg3836416
hg1936416
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6325884
Supporting Variants
Samples
Known GenesCLSTN1, PIK3CD
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18202120
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00015


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