A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5926608



Internal ID22701835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:4616483..4624843hg38UCSC Ensembl
chr12:4725649..4734009hg19UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg388361
hg198361
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17366273
Samples
Known GenesAKAP3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5926608
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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