A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4761919



Internal ID20537779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:215007069..215007069hg38UCSC Ensembl
chr1:215180412..215180412hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38168
hg19168
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16264526
Samples
Known GenesKCNK2
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4761919
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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