A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15198740



Internal ID21337536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:30534760..30535064hg38UCSC Ensembl
chr8:30392277..30392581hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg38305
hg19305
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3942061
Supporting Variants
SamplesHG002
Known GenesRBPMS
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15198740
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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