A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18204311



Internal ID20771351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:6727142..6733583hg38UCSC Ensembl
chr1:6787202..6793643hg19UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg386442
hg196442
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6326345
Supporting Variants
Samples
Known GenesLOC100505887
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18204311
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00038


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