A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3942648



Internal ID21362718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:179522823..179522823hg38UCSC Ensembl
chr1:179491958..179491958hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38356
hg19356
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15188848
SamplesHG002
Known GenesAXDND1
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3942648
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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