A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5950403



Internal ID22725803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:135872403..135872403hg38UCSC Ensembl
chr6:136193541..136193541hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg38388
hg19388
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17428079
Samples
Known GenesPDE7B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5950403
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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