A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17065245



Internal ID21457573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:40348289..40348289hg38UCSC Ensembl
chr1:40813961..40813961hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg385383
hg195383
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5613361
Supporting Variants
SamplesHG02587
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17065245
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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