A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4763246



Internal ID20539106
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 StatusM
Merged Variants
Supporting Variantsnssv16263146
Samples
Known GenesNELL2
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4763246
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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