A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15205118



Internal ID21343919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:133539653..133539653hg38UCSC Ensembl
chr9:136404775..136404775hg19UCSC Ensembl
Cytoband9q34.2
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3928449
Supporting Variants
SamplesHG002
Known GenesADAMTSL2
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15205118
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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