A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5937787



Internal ID22713160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:99620604..99653294hg38UCSC Ensembl
chr12:100014382..100047072hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3832691
hg1932691
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17364494
Samples
Known GenesANKS1B, FAM71C
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5937787
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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