A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5830554



Internal ID22605489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:96795561..96798035hg38UCSC Ensembl
chr1:97261117..97263591hg19UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg382475
hg192475
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17481603
Samples
Known GenesPTBP2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5830554
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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