A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6413093



Internal ID21070646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:7908001..7914000hg38UCSC Ensembl
chr6:7908234..7914233hg19UCSC Ensembl
Cytoband6p24.3
Allele length
AssemblyAllele length
hg386000
hg196000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18226619
Samples
Known GenesBLOC1S5-TXNDC5, TXNDC5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6413093
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