A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5640383



Internal ID21588688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:17700051..17700051hg38UCSC Ensembl
chr9:17700049..17700049hg19UCSC Ensembl
Cytoband9p22.2
Allele length
AssemblyAllele length
hg38100
hg19100
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17161364
SamplesHG00512
Known GenesSH3GL2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5640383
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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