A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5944104



Internal ID22719563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:56493958..56494031hg38UCSC Ensembl
chr12:56887742..56887815hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17360095
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5944104
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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