A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17065345



Internal ID21491187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:42817598..42817598hg38UCSC Ensembl
chr1:43283269..43283269hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38333
hg19333
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5605055
Supporting Variants
SamplesNA19238
Known GenesERMAP
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17065345
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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