A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5569095



Internal ID21517448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:247548963..247568881hg38UCSC Ensembl
chr1:247712265..247732183hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3819919
hg1919919
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17064123
SamplesNA19239
Known GenesGCSAML
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5569095
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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