A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5831758



Internal ID22606693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:177993264..177994363hg38UCSC Ensembl
chr2:178857991..178859090hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg381100
hg191100
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17481237
Samples
Known GenesPDE11A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5831758
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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