A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6519271



Internal ID20892632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:67679273..67895421hg38UCSC Ensembl
chr17:65675389..65891537hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg38216149
hg19216149
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18191037
Samples
Known GenesBPTF, NOL11, PITPNC1, SNORA38B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6519271
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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