A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6512874



Internal ID20886214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:52190353..52198816hg38UCSC Ensembl
chr15:52482550..52491013hg19UCSC Ensembl
Cytoband15q21.2
Allele length
AssemblyAllele length
hg388464
hg198464
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18181318
Samples
Known GenesGNB5, LOC100129973, MYO5C
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6512874
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer