A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv939e212



Internal ID20149395
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46110126..46712255hg38UCSC Ensembl
chr17:44187492..44789621hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38602130
hg19602130
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3573687, esv3573542, esv3573676, esv3573609, esv3573498, esv3573620, esv3573653, esv3573598, esv3573465, esv3573308, esv3573364, esv3573408, esv3573642, esv3573454, esv3573430, esv3573631
Samples401636WR, 401749DJ, 400701MM, 400880TM, 400569WC, 401212HJ, 400534ME, 401640WJ, 400802DP, 400789KV, 401400NP, 400917CG, 401592NR, 401074CM, 400272AE, 400995MS, 400949AM, 400595CP, 401442WR, 401845MJ, 401698SB, 401096SL, 400199SA, 401132CH, 401936BA, 401390DG, 400528LR, 400155CW, 401258PC, 401173AI, 401860TJ, 400066MA, 400343BD, 400061DE, 401104DM, 400206SC, 400333CC, 400653GP, 400579HJ, 401609MB, 400002HK, 401732HW, 400383HL, 401175FA, 400615RI, 400038CK, 401591BE, 401540NA, 400207HN, 401950MD, 401278DM, 400093BL, 400758KP, 400994HJ, 401475MK, 400076LC, 400124FR, 400844GP, 400686BM, 401606CG, 401892MJ, 400639RP, 400846MC, 401711WS, 401011PJ, 400422PN, 401580CA, 400258BC, 401200BD, 400999HR, 400721DJ, 401696CG, 400474GF, 401182OC, 400430KV, 401361GG, 401277RA, 401025SM, 401611CD, 400205SP, 4000046CJ, 401143LK, 401056TJ, 401215MJ, 400323AA, 401135CS, 401797LS, 401817MC, 401829FJ, 400525MR, 401250WD, 400108BJ, 402023EC, 401932GN, 401882CR, 400300SD, 401612HB, 401480PG, 400243CK, 400152MR, 400091BS, 400668TD
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
Comments
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)dgv939e212
Frequency
Sample Size873
Observed Gain102
Observed Loss0
Observed Complex0
Frequencyn/a


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