A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5973109



Internal ID22748044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:64511770..64511770hg38UCSC Ensembl
chr12:64905550..64905550hg19UCSC Ensembl
Cytoband12q14.2
Allele length
AssemblyAllele length
hg38248
hg19248
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17369230
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5973109
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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