A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17076548



Internal ID21449026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:108907203..108907254hg38UCSC Ensembl
chr12:109300979..109301030hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5589353
Supporting Variants
SamplesHG00864
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17076548
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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