A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4388596



Internal ID21379731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:80463803..80463889hg38UCSC Ensembl
chr7:80093119..80093205hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg3887
hg1987
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15704176
Samples
Known GenesGNAT3
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceWong_et_al_2019
Pubmed ID31340865
Accession Number(s)nsv4388596
Frequency
Sample Size174
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer