A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6478057



Internal ID21135610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:113323750..113326903hg38UCSC Ensembl
chr12:113761555..113764708hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg383154
hg193154
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17996841
Samples
Known GenesSLC8B1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6478057
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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