A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6328045



Internal ID20861190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:76669245..76938262hg38UCSC Ensembl
chr1:77134930..77403947hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38269018
hg19269018
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18063153
Samples
Known GenesST6GALNAC5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6328045
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