A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6464380



Internal ID21121933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:54022848..54027191hg38UCSC Ensembl
chr12:54416632..54420975hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg384344
hg194344
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18001483
Samples
Known GenesHOXC4, HOXC5, HOXC6
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6464380
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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