A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5579038



Internal ID21527513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:120466433..120466695hg38UCSC Ensembl
chr1:144828996..144829258hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38263
hg19263
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17060007
SamplesHG00512
Known GenesLOC100288142, NBPF8, NBPF9
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5579038
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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