A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3948512



Internal ID21368581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:2853474..2853474hg38UCSC Ensembl
chr6:2853708..2853708hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg3891
hg1991
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15201878
SamplesHG002
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3948512
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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