A curated catalogue of human genomic structural variation

Variant Details

Variant: dgv940e212

Internal ID20149396
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46113305..46707649hg38UCSC Ensembl
chr17:44190671..44785015hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3582739, esv3582735, esv3582746, esv3582780, esv3582757, esv3582750, esv3582745, esv3582777, esv3582766, esv3582719, esv3582731, esv3582789, esv3582740, esv3582785, esv3582725, esv3582722, esv3582748, esv3582784, esv3582728, esv3582733, esv3582762, esv3582730, esv3582715
Samples400978JG, 400526DR, 401739BJ, 401155ML, 401253MC, 400043HC, 401912HD, 401958MF, 400641WJ, 400987FB, 400075MR, 400454RE, 401801LA, 400926LJ, 401551MB, 401922MW, 401391PJ, 401927SK, 400277LM, 400213DB, 401326LI, 401183HP, 400553PP, 400315DA, 400069CN, 400113LD, 400360SM, 400881GS, 402029KJ, 401824MM, 400532MH, 401858TP, 400733SW, 401314MK, 401384BP, 400583HS, 401112LG, 400241CP, 400424LN, 400145BL, 401655DC, 401406KF, 401646MC, 401596PJ, 400870KC, 400204SC, 400594VJ, 401628GC, 401695BT, 401618HR, 402042BJ, 400763BT, 401994BD, 400109LJ, 401465TB, 401847RK, 400571WV, 401919MD, 400006DK, 400022WA, 400295PS, 401010HT, 401778CB, 400960TN, 401616WP, 401831TW, 400425SL, 400050RL, 401535RJ, 401857VG, 401302LJ, 401906DT, 401111LH, 400201PK, 400827MM
Known GenesARL17A, ARL17B, KANSL1, KANSL1-AS1, LOC644172, LRRC37A, LRRC37A2, NSF, NSFP1
MethodSNP array
AnalysisWe used four separate algorithms to detect CNVs; Affymetrix Chromosome Analysis Suite (ChAS), iPattern, Nexus and Partek. Our primary analysis was performed based on ChAS CNV calls, which were then supported using the remaining three algorithms to construct a confidence set of CNVs. For all algorithms, we have used 8 probes and >1kb as a base line cutoff for CNV detection.
PlatformAffymetrix CytoScan HD 2.7M array
Pubmed ID25503493
Accession Number(s)dgv940e212
Sample Size873
Observed Gain0
Observed Loss75
Observed Complex0

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