A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6332227



Internal ID20865396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:197249548..197250219hg38UCSC Ensembl
chr1:197218678..197219349hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38672
hg19672
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18056398
Samples
Known GenesCRB1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6332227
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