A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600687



Internal ID16388096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:180950385..180970216hg38UCSC Ensembl
Innerchr5:180377385..180397216hg19UCSC Ensembl
Innerchr5:180309991..180329822hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3819832
hg1919832
hg1819832
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1047114, nssv1047189, nssv1047188, nssv1047069, nssv1047126, nssv1047134, nssv1047138, nssv1047078, nssv1047082, nssv1047170, nssv1047164, nssv1047094, nssv1047096, nssv1047091, nssv1047152, nssv1047129, nssv1047098, nssv1047121, nssv1047075, nssv1047149, nssv1047145, nssv1047176, nssv1047084, nssv1047080, nssv1047105, nssv1047108, nssv1047119, nssv1047183, nssv1047116, nssv1047104, nssv1047158, nssv1047154, nssv1047109, nssv1047089, nssv1047090, nssv1047095, nssv1047178, nssv1047102, nssv1047169, nssv1047140, nssv1047124, nssv1047165, nssv1047081, nssv1047106, nssv1047172, nssv1047163, nssv1047128, nssv1047174, nssv1047120, nssv1047139, nssv1047130, nssv1047167, nssv1047157, nssv1047132, nssv1047153, nssv1047148, nssv1047083, nssv1047192, nssv1047099, nssv1047186, nssv1047101, nssv1047074, nssv1047088, nssv1047175, nssv1047156, nssv1047181, nssv1047125, nssv1047100, nssv1047086, nssv1047155, nssv1047184, nssv1047112, nssv1047103, nssv1047076, nssv1047085, nssv1047123, nssv1047144, nssv1047073, nssv1047131, nssv1047135, nssv1047110, nssv1047160, nssv1047137, nssv1047113, nssv1047142, nssv1047177, nssv1047159, nssv1047187, nssv1047166, nssv1047146, nssv1047185, nssv1047168, nssv1047070, nssv1047161, nssv1047117, nssv1047150, nssv1047171, nssv1047162, nssv1047136, nssv1047141, nssv1047180, nssv1047182, nssv1047111, nssv1047107, nssv1047151, nssv1047092, nssv1047173, nssv1047147, nssv1047097, nssv1047143, nssv1047115, nssv1047093, nssv1047071, nssv1047191, nssv1047072, nssv1047122, nssv1047118, nssv1047079, nssv1047133, nssv1047067, nssv1047179, nssv1047190, nssv1047087, nssv1047068, nssv1047127, nssv1047193, nssv1047077
Samples
Known GenesBTNL8
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600687
Frequency
Sample Size17421
Observed Gain0
Observed Loss127
Observed Complex0
Frequencyn/a


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