A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5947739



Internal ID22723241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:46984837..46984837hg38UCSC Ensembl
chr6:46952574..46952574hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg38253
hg19253
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17443992
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5947739
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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