A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5603791



Internal ID21552457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:8740641..8746329hg38UCSC Ensembl
chr12:8893237..8898925hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg385689
hg195689
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17097424
SamplesNA19239
Known GenesRIMKLB
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5603791
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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