A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5963547



Internal ID22738482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:18172731..18172731hg38UCSC Ensembl
chr6:18172962..18172962hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17411880
Samples
Known GenesKDM1B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5963547
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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