A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18207932



Internal ID20774972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:121127231..121128153hg38UCSC Ensembl
chr3:120846078..120847000hg19UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg38923
hg19923
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6368475
Supporting Variants
Samples
Known GenesSTXBP5L
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18207932
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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