A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3117419



Internal ID21300685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31344011..32551793hg38UCSC Ensembl
Innerchr6:31311788..32519570hg19UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg381207783
hg191207783
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1020n145
Supporting Variantsnssv14083546
Samplessample32
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-DRB5, 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)nsv3117419
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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