A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5600683



Internal ID21549324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:19096509..19096636hg38UCSC Ensembl
chr12:19249443..19249570hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg38128
hg19128
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17079324
SamplesNA19238
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5600683
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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