A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6343190



Internal ID21000743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:47528878..47538365hg38UCSC Ensembl
chr2:47756017..47765504hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg389488
hg199488
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18089408
Samples
Known GenesKCNK12
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6343190
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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