A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6143670



Internal ID342871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:70433978..70434701hg38UCSC Ensembl
chr12:70827758..70828481hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg38724
hg19724
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17688933
Samples
Known GenesKCNMB4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6143670
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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