A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17152764



Internal ID21443388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:78096992..78097215hg38UCSC Ensembl
chr5:77392816..77393039hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38224
hg19224
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5571223
Supporting Variants
SamplesHG00732
Known GenesAP3B1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17152764
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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