A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5968751



Internal ID22743686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:39219242..39219242hg38UCSC Ensembl
chr17:37375495..37375495hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17374114
Samples
Known GenesSTAC2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5968751
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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