A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14082885



Internal ID21280857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:29873402..32666862hg38UCSC Ensembl
Innerchr6:29841179..32634639hg19UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg382793461
hg192793461
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3116391
Supporting Variants
Samplessample303
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)nssv14082885
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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