A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17357676



Internal ID22583345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:27748333..27748534hg38UCSC Ensembl
chr1:28074844..28075045hg19UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg38202
hg19202
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5883926
Supporting Variants
Samples
Known GenesFAM76A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17357676
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