A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3110829



Internal ID21294095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31344011..33483174hg38UCSC Ensembl
Innerchr6:31311788..33450951hg19UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg382139164
hg192139164
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14087632
Samplessample200
Known GenesABHD16A, AGER, AGPAT1, AIF1, APOM, ATF6B, ATP6V1G2, ATP6V1G2-DDX39B, B3GALT4, BAG6, BRD2, BTNL2, C2, C4A, C4B, C4B_2, C6orf10, C6orf25, C6orf47, C6orf48, CFB, CLIC1, COL11A2, CSNK2B, CUTA, CYP21A1P, CYP21A2, DAXX, DDAH2, DDX39B, DXO, EGFL8, EHMT2, FKBPL, GPANK1, GPSM3, HCG23, HCG25, HCG26, HCP5, HLA-B, HLA-DMA, HLA-DMB, HLA-DOA, HLA-DOB, HLA-DPA1, HLA-DPB1, HLA-DPB2, HLA-DQA1, HLA-DQA2, HLA-DQB1, HLA-DQB2, HLA-DRA, HLA-DRB1, HLA-DRB5, HLA-DRB6, HSD17B8, HSPA1A, HSPA1B, HSPA1L, KIFC1, LOC100294145, LOC100507547, LOC102060414, LSM2, LST1, LTA, LTB, LY6G5B, LY6G5C, LY6G6C, LY6G6D, LY6G6E, LY6G6F, MCCD1, MICA, MICB, MIR1236, MIR219-1, MIR4646, MIR5004, MIR6721, MIR6832, MIR6833, MIR6834, MIR6873, MIR6891, MSH5, MSH5-SAPCD1, NCR3, NELFE, NEU1, NFKBIL1, NOTCH4, PBX2, PFDN6, PHF1, PPT2, PPT2-EGFL8, PRRC2A, PRRT1, PSMB8, PSMB9, RGL2, RING1, RNF5, RNF5P1, RPS18, RXRB, SAPCD1, SKIV2L, SLC39A7, SLC44A4, SNORA38, SNORD117, SNORD48, SNORD52, SNORD84, STK19, SYNGAP1, TAP1, TAP2, TAPBP, TAPSAR1, TNF, TNXA, TNXB, VARS, VPS52, VWA7, WDR46, ZBTB12, ZBTB22, ZBTB9
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3110829
Frequency
Sample Size467
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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