A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17065455



Internal ID21459322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:54898301..54903585hg38UCSC Ensembl
chr1:55363974..55369258hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg385285
hg195285
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5575680
Supporting Variants
SamplesHG02818
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17065455
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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