A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6519921



Internal ID20893282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:55134101..55138400hg38UCSC Ensembl
chr17:53211462..53215761hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg384300
hg194300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3194n223
Supporting Variantsnssv18036913
Samples
Known GenesSTXBP4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6519921
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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