A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5918471



Internal ID22693692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:113644658..113645176hg38UCSC Ensembl
chr7:113284713..113285231hg19UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg38519
hg19519
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17434960
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5918471
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