A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6463361



Internal ID21120914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:93392543..93395386hg38UCSC Ensembl
chr12:93786319..93789162hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg382844
hg192844
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18005817
Samples
Known GenesNUDT4, NUDT4P1, NUDT4P2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6463361
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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