A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5959492



Internal ID22734519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:96746830..96746830hg38UCSC Ensembl
chr1:97212386..97212386hg19UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg38147
hg19147
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17397976
Samples
Known GenesPTBP2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5959492
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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