A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17386956



Internal ID22444826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:35042551..35131102hg38UCSC Ensembl
chr14:35511757..35600308hg19UCSC Ensembl
Cytoband14q13.2
Allele length
AssemblyAllele length
hg3888552
hg1988552
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5930047
Supporting Variants
Samples
Known GenesFAM177A1, KIAA0391, PPP2R3C
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17386956
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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