A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6515002



Internal ID20888358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:28371101..28759756hg38UCSC Ensembl
chr17:26698122..27086774hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38388656
hg19388653
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18180390
Samples
Known GenesALDOC, FAM222B, FOXN1, KIAA0100, NARR, NEK8, PIGS, PROCA1, RAB34, RPL23A, SARM1, SDF2, SGK494, SLC13A2, SLC46A1, SNORD42A, SNORD42B, SNORD4A, SNORD4B, SPAG5, SPAG5-AS1, SUPT6H, TLCD1, TRAF4, UNC119
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6515002
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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