A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5649325



Internal ID21597630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:9328167..9328167hg38UCSC Ensembl
chr12:9480763..9480763hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38191
hg19191
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17096087, nssv17094381
SamplesNA18939, NA18534
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5649325
Frequency
Sample Size35
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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