A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18187025



Internal ID20754065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122927333..122931486hg38UCSC Ensembl
chr12:123411880..123416033hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg384154
hg194154
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6478495
Supporting Variants
Samples
Known GenesABCB9
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18187025
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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