A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17060752



Internal ID21488873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:148384065..148384135hg38UCSC Ensembl
chr1:147856221..147856291hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5578890
Supporting Variants
SamplesNA18939
Known GenesNBPF8
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17060752
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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