A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5615596



Internal ID21563901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:85362448..85362448hg38UCSC Ensembl
chr2:85589571..85589571hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38348
hg19348
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17115616
SamplesHG03732
Known GenesELMOD3
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5615596
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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