A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15204836



Internal ID21343641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:30388398..30388398hg38UCSC Ensembl
chr8:30245914..30245914hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg38433
hg19433
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3933318
Supporting Variants
SamplesHG002
Known GenesRBPMS
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15204836
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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