A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv10403n54



Internal ID20143827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:31312324..32049763hg38UCSC Ensembl
chr6:31280101..32017540hg19UCSC Ensembl
chr6:31388080..32125518hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg38737440
hg19737440
hg18737439
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv601610, nsv601630, nsv601629, nsv601609, nsv601628, nsv601631
Samples
Known GenesABHD16A, AIF1, APOM, ATP6V1G2, ATP6V1G2-DDX39B, BAG6, C2, C4A, C4B, C4B_2, C6orf25, C6orf47, C6orf48, CFB, CLIC1, CSNK2B, CYP21A1P, CYP21A2, DDAH2, DDX39B, DXO, EHMT2, GPANK1, HCG26, HCP5, HLA-B, HSPA1A, HSPA1B, HSPA1L, LOC102060414, LSM2, LST1, LTA, LTB, LY6G5B, LY6G5C, LY6G6C, LY6G6D, LY6G6E, LY6G6F, MCCD1, MICA, MICB, MIR1236, MIR4646, MIR6832, MIR6891, MSH5, MSH5-SAPCD1, NCR3, NELFE, NEU1, NFKBIL1, PRRC2A, SAPCD1, SKIV2L, SLC44A4, SNORA38, SNORD117, SNORD48, SNORD52, SNORD84, STK19, TNF, TNXA, TNXB, VARS, VWA7, ZBTB12
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv10403n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer