A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6319266



Internal ID20852359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:53571791..53577119hg38UCSC Ensembl
chr1:54037464..54042792hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg385329
hg195329
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18061515
Samples
Known GenesGLIS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6319266
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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