A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16263146



Internal ID20472364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:44670585..44670585hg38UCSC Ensembl
chr12:45064368..45064368hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38300
hg19300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4763246
Supporting Variants
Samples
Known GenesNELL2
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16263146
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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