A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17060047



Internal ID21449572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:101253173..101253173hg38UCSC Ensembl
chr1:101718729..101718729hg19UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg38841
hg19841
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5619496
Supporting Variants
SamplesHG01114
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17060047
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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