A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6465780



Internal ID21123333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:70400338..70400945hg38UCSC Ensembl
chr12:70794118..70794725hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg38608
hg19608
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18003174
Samples
Known GenesKCNMB4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6465780
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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