A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3113074



Internal ID21296340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31344011..32626512hg38UCSC Ensembl
Innerchr6:31311788..32594289hg19UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg381282502
hg191282502
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1020n145
Supporting Variantsnssv14086514, nssv14082879, nssv14086452, nssv14083642
Samplessample159, sample48, sample147, sample302
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)nsv3113074
Frequency
Sample Size467
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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