A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18201100



Internal ID20768140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:178402916..178420223hg38UCSC Ensembl
chr1:178372051..178389358hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg3817308
hg1917308
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6316908
Supporting Variants
Samples
Known GenesRASAL2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18201100
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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