A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17400727



Internal ID22458597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:233112930..233114179hg38UCSC Ensembl
chr2:233977640..233978889hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg381250
hg191250
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5904278
Supporting Variants
Samples
Known GenesINPP5D
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17400727
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