A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5947596



Internal ID22723103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:118443247..118443247hg38UCSC Ensembl
chr7:118083301..118083301hg19UCSC Ensembl
Cytoband7q31.31
Allele length
AssemblyAllele length
hg38320
hg19320
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17440403
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5947596
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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