A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5913678



Internal ID22688894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:28488929..28490159hg38UCSC Ensembl
chr12:28641862..28643092hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg381231
hg191231
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17360282
Samples
Known GenesCCDC91
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5913678
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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