A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6316365



Internal ID20849444
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:204207093..204226855hg38UCSC Ensembl
chr1:204176221..204195983hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3819763
hg1919763
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18201851
Samples
Known GenesGOLT1A, PLEKHA6
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6316365
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