A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17376303



Internal ID22601972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:78903527..78994644hg38UCSC Ensembl
chr17:76899609..76990726hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3891118
hg1991118
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5934030
Supporting Variants
Samples
Known GenesCANT1, LGALS3BP, TIMP2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17376303
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer