A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5827819



Internal ID22602754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:115691175..115717867hg38UCSC Ensembl
chr1:116233796..116260488hg19UCSC Ensembl
Cytoband1p13.1
Allele length
AssemblyAllele length
hg3826693
hg1926693
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17455275
Samples
Known GenesCASQ2, VANGL1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5827819
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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