A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6462473



Internal ID21120026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:15670101..15672600hg38UCSC Ensembl
chr12:15823035..15825534hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg382500
hg192500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17997637
Samples
Known GenesEPS8
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6462473
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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