A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5966046



Internal ID22740981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:173440056..173440056hg38UCSC Ensembl
chr2:174304784..174304784hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38157
hg19157
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17401173
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5966046
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