A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18223561



Internal ID20790602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:119562396..119963335hg38UCSC Ensembl
chr8:120574636..120975575hg19UCSC Ensembl
Cytoband8q24.12
Allele length
AssemblyAllele length
hg38400940
hg19400940
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6421097
Supporting Variants
Samples
Known GenesDEPTOR, DSCC1, ENPP2, TAF2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18223561
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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