A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6525800



Internal ID20899161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:49156664..49159336hg38UCSC Ensembl
chr17:47234026..47236698hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg382673
hg192673
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18036111
Samples
Known GenesB4GALNT2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6525800
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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