A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18188294



Internal ID20755334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:57314270..57318487hg38UCSC Ensembl
chr12:57708053..57712270hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg384218
hg194218
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6464990
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18188294
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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