A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5967826



Internal ID22742761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:15514260..15514260hg38UCSC Ensembl
chr17:15417574..15417574hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg38427
hg19427
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17379699
Samples
Known GenesTVP23C, TVP23C-CDRT4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5967826
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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