A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5623220



Internal ID21571525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:215623190..215623190hg38UCSC Ensembl
chr1:215796532..215796532hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38341
hg19341
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17062677
SamplesHG00512
Known GenesUSH2A
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5623220
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