A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15746546



Internal ID21386747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:30387485..30389484hg38UCSC Ensembl
chr8:30245001..30247000hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg382000
hg192000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4435485
Supporting Variants
SamplesMDQ025
Known GenesRBPMS
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nssv15746546
Frequency
Sample Size15
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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