A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3942466



Internal ID21362535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:92122220..92122220hg38UCSC Ensembl
chr7:91751534..91751534hg19UCSC Ensembl
Cytoband7q21.2
Allele length
AssemblyAllele length
hg38315
hg19315
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15203404
SamplesHG002
Known GenesCYP51A1
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3942466
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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