A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17110149



Internal ID21487653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:227325429..227325429hg38UCSC Ensembl
chr2:228190145..228190145hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg38627
hg19627
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5622606
Supporting Variants
SamplesNA18534
Known GenesMFF
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17110149
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