A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6472503



Internal ID21130056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:70388215..70393058hg38UCSC Ensembl
chr12:70781995..70786838hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg384844
hg194844
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18003173
Samples
Known GenesKCNMB4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6472503
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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