A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17061144



Internal ID21432387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:150718959..150719292hg38UCSC Ensembl
chr1:150691435..150691768hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38334
hg19334
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5569046
Supporting Variants
SamplesHG00731
Known GenesHORMAD1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17061144
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