A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14083941



Internal ID21288249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:29873402..32613714hg38UCSC Ensembl
Innerchr6:29841179..32581491hg19UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg382740313
hg192740313
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3112525
Supporting Variants
Samplessample413
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)nssv14083941
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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