A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5960328



Internal ID22735313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:94475767..94475767hg38UCSC Ensembl
chr1:94941323..94941323hg19UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg38332
hg19332
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17400654
Samples
Known GenesABCD3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5960328
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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