A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18196918



Internal ID20763958
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:124983354..124996171hg38UCSC Ensembl
chr12:125467900..125480717hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3812818
hg1912818
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6491582
Supporting Variants
Samples
Known GenesBRI3BP, DHX37
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18196918
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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