A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6322757



Internal ID20855871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:210111301..210114300hg38UCSC Ensembl
chr1:210284646..210287645hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg383000
hg193000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv519n223
Supporting Variantsnssv18057328
Samples
Known GenesSYT14
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6322757
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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