A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5608275



Internal ID21556580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:74758446..74758446hg38UCSC Ensembl
chr1:75224130..75224130hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17067246, nssv17067247
SamplesHG00731, HG00732
Known GenesTYW3
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5608275
Frequency
Sample Size35
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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