A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6334729



Internal ID20867917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:76206720..76265227hg38UCSC Ensembl
chr1:76672405..76730912hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3858508
hg1958508
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18064098
Samples
Known GenesST6GALNAC3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6334729
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