A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517229



Internal ID15097836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:58176226..58373163hg38UCSC Ensembl
Innerchr17:56253587..56450524hg19UCSC Ensembl
Innerchr17:53608586..53805523hg18UCSC Ensembl
Innerchr17:53608586..53805523hg17UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38196938
hg19196938
hg18196938
hg17196938
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv684354, nssv674410, nssv684099, nssv690266, nssv684985, nssv672375, nssv683646, nssv673340, nssv654885, nssv685731, nssv669272, nssv701447, nssv694286, nssv653731, nssv689455, nssv681595, nssv659500, nssv688522, nssv656919, nssv655934, nssv680291, nssv664549, nssv668727, nssv657495, nssv682323, nssv692376, nssv657811, nssv692000, nssv652341, nssv677489, nssv672622, nssv700838, nssv680741, nssv660434, nssv699582, nssv692892, nssv667942, nssv683280, nssv692937, nssv657075, nssv664609, nssv674746, nssv660933, nssv690759, nssv665168, nssv674163, nssv677729, nssv654917, nssv692802, nssv656781, nssv693034, nssv693334, nssv678298, nssv697255, nssv682228, nssv683076, nssv665559, nssv659743, nssv670957, nssv672588, nssv674533, nssv674976, nssv663673, nssv692916, nssv654995, nssv657584, nssv704365, nssv692685, nssv690239, nssv680794, nssv657001, nssv691451, nssv652241, nssv683780, nssv665838, nssv660831, nssv693743, nssv688551, nssv674198, nssv675226, nssv667284, nssv665899, nssv667567, nssv654003, nssv684594, nssv658324, nssv674773, nssv666077, nssv693433, nssv680169, nssv654755, nssv682131, nssv670001, nssv682261, nssv652172, nssv680997, nssv671372, nssv657661, nssv680965
Samples
Known GenesBZRAP1, BZRAP1-AS1, EPX, LPO, MIR142, MIR4736, MKS1, MPO, RNF43, SUPT4H1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517229
Frequency
Sample Size2026
Observed Gain1
Observed Loss98
Observed Complex0
Frequencyn/a


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