A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6509148



Internal ID20882454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:31295278..31295794hg38UCSC Ensembl
chr17:29622296..29622812hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38517
hg19517
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18034879
Samples
Known GenesNF1, OMG
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6509148
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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