A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6512063



Internal ID20885393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:4196063..4502769hg38UCSC Ensembl
chr17:4099358..4406064hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38306707
hg19306707
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18177513
Samples
Known GenesANKFY1, SPNS2, SPNS3, UBE2G1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6512063
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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