A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6465597



Internal ID21123150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:12107401..12112400hg38UCSC Ensembl
chr12:12260335..12265334hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg385000
hg195000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17997724
Samples
Known GenesMIR1244-1, MIR1244-2, MIR1244-3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6465597
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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