A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5944414



Internal ID22719879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:110548671..110549029hg38UCSC Ensembl
chr12:110986476..110986834hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg38359
hg19359
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17363179
Samples
Known GenesPPTC7
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5944414
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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