A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18201048



Internal ID20768088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:17439501..17442000hg38UCSC Ensembl
chr1:17765997..17768496hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg382500
hg192500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6325350
Supporting Variants
Samples
Known GenesRCC2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18201048
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00016


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