A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5597704



Internal ID21546321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:3043405..3043474hg38UCSC Ensembl
chr12:3152571..3152640hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17079411
SamplesNA19238
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5597704
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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