A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5642448



Internal ID21590753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:46780469..46780469hg38UCSC Ensembl
chr7:46820067..46820067hg19UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17147653
SamplesHG00171
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5642448
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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