A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5977393



Internal ID22752328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:81091062..81091062hg38UCSC Ensembl
chr17:79064862..79064862hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38239
hg19239
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17379540
Samples
Known GenesBAIAP2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5977393
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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