A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18202499



Internal ID20769539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:23784459..23785031hg38UCSC Ensembl
chr1:24110949..24111521hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg38573
hg19573
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6324779
Supporting Variants
Samples
Known GenesPITHD1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18202499
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00052


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