A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1052871



Internal ID15559371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31312550..32043540hg38UCSC Ensembl
Innerchr6:31280327..32011317hg19UCSC Ensembl
Innerchr6:31388306..32119296hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg38730991
hg19730991
hg18730991
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv601630
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)nssv1052871
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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