A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5973140



Internal ID22748075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:44670576..44670576hg38UCSC Ensembl
chr12:45064359..45064359hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38322
hg19322
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17354507
Samples
Known GenesNELL2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5973140
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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