A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18201824



Internal ID20768865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:202364011..202368222hg38UCSC Ensembl
chr1:202333139..202337350hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg384212
hg194212
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6323611
Supporting Variants
Samples
Known GenesPPP1R12B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18201824
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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