A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5619662



Internal ID21567967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:210718363..210718363hg38UCSC Ensembl
chr1:210891705..210891705hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg38250
hg19250
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17062259
SamplesNA24385
Known GenesKCNH1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5619662
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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