A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17063199



Internal ID21483924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:226114932..226114981hg38UCSC Ensembl
chr1:226302633..226302682hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5576112
Supporting Variants
SamplesNA12329
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17063199
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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