A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6514899



Internal ID20888254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:5225494..5229691hg38UCSC Ensembl
chr17:5128789..5132986hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg384198
hg194198
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18036214
Samples
Known GenesLOC100130950, SCIMP
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6514899
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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