A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5620800



Internal ID21569105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:18589292..18589292hg38UCSC Ensembl
chr2:18770558..18770558hg19UCSC Ensembl
Cytoband2p24.2
Allele length
AssemblyAllele length
hg381420
hg191420
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17110797
SamplesHG01114
Known GenesNT5C1B, NT5C1B-RDH14
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5620800
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