A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6483397



Internal ID21140950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:110553037..110553610hg38UCSC Ensembl
chr12:110990842..110991415hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg38574
hg19574
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17996922
Samples
Known GenesPPTC7
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6483397
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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