A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv601630



Internal ID16042353
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 StatusM
Merged Variantsdgv10403n54
Supporting Variantsnssv1052871
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)nsv601630
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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