A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5579988



Internal ID21528473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:210389084..210389172hg38UCSC Ensembl
chr1:210562428..210562516hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg3889
hg1989
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17062647
SamplesHG00732
Known GenesHHAT
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5579988
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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