A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6478135



Internal ID21135688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:87655201..87701600hg38UCSC Ensembl
chr13:88307456..88353855hg19UCSC Ensembl
Cytoband13q31.2
Allele length
AssemblyAllele length
hg3846400
hg1946400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1953n223
Supporting Variantsnssv18179701
Samples
Known GenesMIR4500HG, SLITRK5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6478135
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