A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5643191



Internal ID21591496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:5930763..5930763hg38UCSC Ensembl
chr7:5970394..5970394hg19UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg38328
hg19328
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17141109, nssv17141898
SamplesNA19238, HG03683
Known GenesRSPH10B, RSPH10B2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5643191
Frequency
Sample Size35
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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