A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17107532



Internal ID21472519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:112432955..112432955hg38UCSC Ensembl
chr2:113190532..113190532hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg3889
hg1989
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5620089
Supporting Variants
SamplesHG03125
Known GenesRGPD5, RGPD8
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17107532
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