A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5604870



Internal ID21539679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:112565288..112565288hg38UCSC Ensembl
chr2:113322865..113322865hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38123
hg19123
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17107539
SamplesNA20847
Known GenesPOLR1B
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5604870
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