A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3113996



Internal ID21297262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31344011..32664198hg38UCSC Ensembl
Innerchr6:31311788..32631975hg19UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg381320188
hg191320188
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1020n145
Supporting Variantsnssv14086476
Samplessample152
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-DQA1, HLA-DQB1, 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)nsv3113996
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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