A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17439609



Internal ID22497479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:133735668..133789687hg38UCSC Ensembl
chr9:136600790..136654809hg19UCSC Ensembl
Cytoband9q34.2
Allele length
AssemblyAllele length
hg3854020
hg1954020
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5922210
Supporting Variants
Samples
Known GenesSARDH, VAV2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17439609
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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