A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5617531



Internal ID21565837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:50446976..50446976hg38UCSC Ensembl
chr1:50912648..50912648hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38310
hg19310
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17065385
SamplesNA19239
Known GenesFAF1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5617531
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