A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5908115



Internal ID22683325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:32362189..32366448hg38UCSC Ensembl
chr12:32515123..32519382hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg384260
hg194260
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17360216
Samples
Known GenesBICD1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5908115
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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