A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14087599



Internal ID21273479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:29873402..32666822hg38UCSC Ensembl
Innerchr6:29841179..32634599hg19UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg382793421
hg192793421
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3116433
Supporting Variants
Samplessample191
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-DQA1, HLA-DQB1, 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)nssv14087599
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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