A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5830315



Internal ID22605250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:40511042..40517697hg38UCSC Ensembl
chr1:40976714..40983369hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg386656
hg196656
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17462394
Samples
Known GenesEXO5
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5830315
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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