A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3115439



Internal ID21298705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:29873402..32626512hg38UCSC Ensembl
Innerchr6:29841179..32594289hg19UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg382753111
hg192753111
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14087704, nssv14086423, nssv14082845, nssv14083479, nssv14083973, nssv14083930, nssv14082848
Samplessample11, sample13, sample420, sample142, sample217, sample10, sample411
Known GenesABCF1, ABHD16A, AGER, AGPAT1, AIF1, APOM, ATAT1, ATF6B, ATP6V1G2, ATP6V1G2-DDX39B, BAG6, BTNL2, C2, C4A, C4B, C4B_2, C6orf10, C6orf136, C6orf15, C6orf25, C6orf47, C6orf48, CCHCR1, CDSN, CFB, CLIC1, CSNK2B, CYP21A1P, CYP21A2, DDAH2, DDR1, DDX39B, DHX16, DPCR1, DXO, EGFL8, EHMT2, FKBPL, FLOT1, GNL1, GPANK1, GPSM3, GTF2H4, HCG17, HCG18, HCG22, HCG23, HCG26, HCG27, HCG4B, HCG8, HCG9, HCP5, HLA-A, HLA-B, HLA-C, HLA-DRA, HLA-DRB1, HLA-DRB5, HLA-DRB6, HLA-E, HLA-H, HLA-J, HLA-L, HSPA1A, HSPA1B, HSPA1L, IER3, LOC100507547, LOC102060414, LSM2, LST1, LTA, LTB, LY6G5B, LY6G5C, LY6G6C, LY6G6D, LY6G6E, LY6G6F, MCCD1, MDC1, MICA, MICB, MIR1236, MIR4640, MIR4646, MIR6721, MIR6832, MIR6833, MIR6891, MIR877, MRPS18B, MSH5, MSH5-SAPCD1, MUC21, MUC22, NCR3, NELFE, NEU1, NFKBIL1, NOTCH4, NRM, PBX2, POU5F1, PPP1R10, PPP1R11, PPP1R18, PPT2, PPT2-EGFL8, PRR3, PRRC2A, PRRT1, PSORS1C1, PSORS1C2, PSORS1C3, RNF39, RNF5, RNF5P1, RPP21, SAPCD1, SFTA2, SKIV2L, SLC44A4, SNORA38, SNORD117, SNORD48, SNORD52, SNORD84, STK19, TCF19, TNF, TNXA, TNXB, TRIM10, TRIM15, TRIM26, TRIM31, TRIM39, TRIM39-RPP21, TRIM40, TUBB, VARS, VARS2, VWA7, ZBTB12, ZNRD1, ZNRD1-AS1
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3115439
Frequency
Sample Size467
Observed Gain5
Observed Loss2
Observed Complex0
Frequencyn/a


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