A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18202145



Internal ID20769185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:99682330..99949365hg38UCSC Ensembl
chr1:100147886..100414921hg19UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg38267036
hg19267036
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6329021
Supporting Variants
Samples
Known GenesAGL, FRRS1, MIR548AA1, MIR548D1, PALMD
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18202145
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0001


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