A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14089148



Internal ID21278346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31344011..32608896hg38UCSC Ensembl
Innerchr6:31311788..32576673hg19UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg381264886
hg191264886
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3110935
Supporting Variants
Samplessample268
Known GenesABHD16A, AGER, AGPAT1, AIF1, APOM, ATF6B, ATP6V1G2, ATP6V1G2-DDX39B, BAG6, BTNL2, C2, C4A, C4B, C4B_2, C6orf10, C6orf25, C6orf47, C6orf48, CFB, CLIC1, CSNK2B, CYP21A1P, CYP21A2, DDAH2, DDX39B, DXO, EGFL8, EHMT2, FKBPL, GPANK1, GPSM3, HCG23, HCG26, HCP5, HLA-B, HLA-DRA, HLA-DRB1, HLA-DRB5, HLA-DRB6, HSPA1A, HSPA1B, HSPA1L, LOC100507547, LOC102060414, LSM2, LST1, LTA, LTB, LY6G5B, LY6G5C, LY6G6C, LY6G6D, LY6G6E, LY6G6F, MCCD1, MICA, MICB, MIR1236, MIR4646, MIR6721, MIR6832, MIR6833, MIR6891, MSH5, MSH5-SAPCD1, NCR3, NELFE, NEU1, NFKBIL1, NOTCH4, PBX2, PPT2, PPT2-EGFL8, PRRC2A, PRRT1, RNF5, RNF5P1, SAPCD1, SKIV2L, SLC44A4, SNORA38, SNORD117, SNORD48, SNORD52, SNORD84, STK19, TNF, TNXA, TNXB, VARS, VWA7, ZBTB12
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14089148
Frequency
Sample Size467
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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