A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5955386



Internal ID22707591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:77406210..77406210hg38UCSC Ensembl
chr1:77871895..77871895hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38440
hg19440
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17386782
Samples
Known GenesAK5
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5955386
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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