A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5950800



Internal ID22726192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:123378804..123378804hg38UCSC Ensembl
chr9:126141083..126141083hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg38227
hg19227
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17449237
Samples
Known GenesCRB2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5950800
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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