A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5954724



Internal ID22729959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:82140969..82140969hg38UCSC Ensembl
chr7:81770285..81770285hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg38256
hg19256
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17436039
Samples
Known GenesCACNA2D1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5954724
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