A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18202338



Internal ID20769378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:200024401..200051200hg38UCSC Ensembl
chr1:199993529..200020328hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3826800
hg1926800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6327685
Supporting Variants
Samples
Known GenesNR5A2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18202338
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00038


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