A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5570122



Internal ID21518486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:30115807..30116072hg38UCSC Ensembl
chr7:30155423..30155688hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg38266
hg19266
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17157626
SamplesHG02818
Known GenesPLEKHA8
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5570122
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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