A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17061383



Internal ID21432488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:17768315..17768315hg38UCSC Ensembl
chr1:18094810..18094810hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5604711
Supporting Variants
SamplesHG00731
Known GenesACTL8
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17061383
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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