A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5576472



Internal ID21524911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:30439232..30445297hg38UCSC Ensembl
chr7:30478848..30484913hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg386066
hg196066
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17142674
SamplesHG02818
Known GenesNOD1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5576472
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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