A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5605950



Internal ID21554255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:8871715..8871715hg38UCSC Ensembl
chr1:8931774..8931774hg19UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg38847
hg19847
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17067288
SamplesHG01505
Known GenesENO1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5605950
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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