A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18202049



Internal ID20769090
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:220049653..220054794hg38UCSC Ensembl
chr1:220222995..220228136hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg385142
hg195142
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6330808
Supporting Variants
Samples
Known GenesRNU5F-1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18202049
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0001


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