A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5606292



Internal ID21554597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:222480319..222480319hg38UCSC Ensembl
chr1:222653661..222653661hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg381264
hg191264
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17062812
SamplesHG00171
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5606292
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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