A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6317338



Internal ID20850422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:245957215..246623503hg38UCSC Ensembl
chr1:246120517..246786805hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38666289
hg19666289
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv579n223
Supporting Variantsnssv18200687
Samples
Known GenesCNST, LOC255654, SMYD3, TFB2M
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6317338
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