A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5601613



Internal ID21550262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:121993812..121994119hg38UCSC Ensembl
chr12:122431718..122432025hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38308
hg19308
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17077642
SamplesNA12329
Known GenesWDR66
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5601613
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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