A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18199758



Internal ID20766798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:117406601..117428300hg38UCSC Ensembl
chr1:117949223..117970922hg19UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg3821700
hg1921700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6324054
Supporting Variants
Samples
Known GenesMAN1A2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18199758
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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