A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5829283



Internal ID22604218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:242383204..242392848hg38UCSC Ensembl
chr1:242546506..242556150hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg389645
hg199645
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17466530
Samples
Known GenesPLD5
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5829283
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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