A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5957414



Internal ID22732532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:133539653..133539653hg38UCSC Ensembl
chr9:136404775..136404775hg19UCSC Ensembl
Cytoband9q34.2
Allele length
AssemblyAllele length
hg38135
hg19135
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17444892
Samples
Known GenesADAMTSL2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5957414
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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