A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5569830



Internal ID21518192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:35576928..35576995hg38UCSC Ensembl
chr1:36042529..36042596hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17065158
SamplesHG00513
Known GenesTFAP2E
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5569830
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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