A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5910243



Internal ID22685454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:8737925..8747966hg38UCSC Ensembl
chr12:8890521..8900562hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3810042
hg1910042
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17355033
Samples
Known GenesRIMKLB
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5910243
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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