A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4432567



Internal ID21394569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:66797883..66799882hg38UCSC Ensembl
chr17:64794001..64796000hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg382000
hg192000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15749758, nssv15748084, nssv15753626, nssv15753484, nssv15748805, nssv15745821, nssv15748053, nssv15751190, nssv15747426, nssv15749951, nssv15754477
SamplesNB12, SMI034, NB08, BTQ038, NB10, BTQ055, BTQ016, NB11, NB07, SMI018, NB09
Known GenesPRKCA
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nsv4432567
Frequency
Sample Size15
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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