A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6468450



Internal ID21126003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:369012..372128hg38UCSC Ensembl
chr12:478178..481294hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg383117
hg193117
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18000834
Samples
Known GenesKDM5A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6468450
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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