A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6371675



Internal ID21029228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:132697698..132712076hg38UCSC Ensembl
chr3:132416542..132430920hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg3814379
hg1914379
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18094190
Samples
Known GenesNPHP3, NPHP3-ACAD11
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6371675
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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