A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5870070



Internal ID22645005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:231992666..232008310hg38UCSC Ensembl
chr1:232128412..232144056hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg3815645
hg1915645
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17351309
Samples
Known GenesDISC1, TSNAX-DISC1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5870070
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