A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18201432



Internal ID20768472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:50825301..50830800hg38UCSC Ensembl
chr1:51290973..51296472hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg385500
hg195500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6328713
Supporting Variants
Samples
Known GenesFAF1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18201432
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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