A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1052872



Internal ID15559372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31312550..32049763hg38UCSC Ensembl
Innerchr6:31280327..32017540hg19UCSC Ensembl
Innerchr6:31388306..32125518hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg38737214
hg19737214
hg18737213
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv601631
Supporting Variants
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)nssv1052872
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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