A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5609238



Internal ID21557543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:2763696..2763696hg38UCSC Ensembl
chr1:2687504..2687504hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg38282
hg19282
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17064517
SamplesHG00732
Known GenesTTC34
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5609238
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