A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18201769



Internal ID20768809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:184931360..184939901hg38UCSC Ensembl
chr1:184900492..184909033hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg388542
hg198542
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6319851
Supporting Variants
Samples
Known GenesFAM129A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18201769
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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