A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6478720



Internal ID21136273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:118981420..118986630hg38UCSC Ensembl
chr12:119419225..119424435hg19UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg385211
hg195211
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18190223
Samples
Known GenesSRRM4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6478720
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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