A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5628253



Internal ID21576558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:51648249..51648249hg38UCSC Ensembl
chr7:51715945..51715945hg19UCSC Ensembl
Cytoband7p12.1
Allele length
AssemblyAllele length
hg38496
hg19496
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17150267
SamplesHG02492
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5628253
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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