A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17398058



Internal ID22455928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:113941870..113942164hg38UCSC Ensembl
chr3:113660717..113661011hg19UCSC Ensembl
Cytoband3q13.31
Allele length
AssemblyAllele length
hg38295
hg19295
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5901292
Supporting Variants
Samples
Known GenesGRAMD1C
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17398058
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