A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv601609



Internal ID16042332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31312324..31832009hg38UCSC Ensembl
Innerchr6:31280101..31799786hg19UCSC Ensembl
Innerchr6:31388080..31907765hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg38519686
hg19519686
hg18519686
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10403n54
Supporting Variantsnssv1052772
Samples
Known GenesABHD16A, AIF1, APOM, ATP6V1G2, ATP6V1G2-DDX39B, BAG6, C6orf25, C6orf47, CLIC1, CSNK2B, DDAH2, DDX39B, GPANK1, HCG26, HCP5, HLA-B, HSPA1A, HSPA1B, HSPA1L, LSM2, LST1, LTA, LTB, LY6G5B, LY6G5C, LY6G6C, LY6G6D, LY6G6E, LY6G6F, MCCD1, MICA, MICB, MIR4646, MIR6832, MIR6891, MSH5, MSH5-SAPCD1, NCR3, NFKBIL1, PRRC2A, SAPCD1, SNORA38, SNORD117, SNORD84, TNF, VARS, VWA7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv601609
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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