A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5591124



Internal ID21539697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:6520389..6520454hg38UCSC Ensembl
chr12:6629555..6629620hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17087742
SamplesHG02818
Known GenesNCAPD2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5591124
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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