A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6513806



Internal ID20887154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:7990455..8357154hg38UCSC Ensembl
chr17:7893773..8260472hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg38366700
hg19366700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18180237
Samples
Known GenesALOX12B, ALOX15B, ALOXE3, ARHGEF15, AURKB, C17orf59, CTC1, GUCY2D, HES7, LINC00324, MIR4314, MIR4521, MIR6883, ODF4, PER1, PFAS, RANGRF, SLC25A35, TMEM107, VAMP2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6513806
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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