A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6317143



Internal ID20850227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:227730401..227731100hg38UCSC Ensembl
chr1:227918102..227918801hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38700
hg19700
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18058240
Samples
Known GenesLOC100130093
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6317143
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