A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6456879



Internal ID21114432
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:53423701..53425900hg38UCSC Ensembl
chr12:53817485..53819684hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg382200
hg192200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18001455
Samples
Known GenesAMHR2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6456879
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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