A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6022693



Internal ID21932036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:8725929..8736558hg38UCSC Ensembl
chr12:8878525..8889154hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3810630
hg1910630
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17604557
Samples
Known GenesRIMKLB
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6022693
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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