A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597275



Internal ID16384684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:15719502..15720747hg38UCSC Ensembl
Innerchr5:15719611..15720856hg19UCSC Ensembl
Innerchr5:15772611..15773856hg18UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg381246
hg191246
hg181246
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9613n54
Supporting Variantsnssv1026125, nssv1026159, nssv1026126, nssv1026134, nssv1026132, nssv1026110, nssv1026179, nssv1026163, nssv1026108, nssv1026120, nssv1026113, nssv1026111, nssv1026143, nssv1026131, nssv1026157, nssv1026107, nssv1026106, nssv1026103, nssv1026184, nssv1026191, nssv1026187, nssv1026142, nssv1026104, nssv1026150, nssv1026171, nssv1026115, nssv1026166, nssv1026180, nssv1026148, nssv1026118, nssv1026128, nssv1026192, nssv1026136, nssv1026174, nssv1026164, nssv1026194, nssv1026112, nssv1026109, nssv1026147, nssv1026177, nssv1026176, nssv1026182, nssv1026175, nssv1026144, nssv1026124, nssv1026121, nssv1026156, nssv1026190, nssv1026181, nssv1026116, nssv1026193, nssv1026189, nssv1026133, nssv1026165, nssv1026153, nssv1026151, nssv1026188, nssv1026173, nssv1026162, nssv1026158, nssv1026154, nssv1026146, nssv1026161, nssv1026129, nssv1026149, nssv1026169, nssv1026105, nssv1026172, nssv1026141, nssv1026186, nssv1026100, nssv1026139, nssv1026168, nssv1026130, nssv1026155, nssv1026102, nssv1026127, nssv1026140, nssv1026183, nssv1026160, nssv1026114, nssv1026167, nssv1026135, nssv1026170, nssv1026152, nssv1026099, nssv1026117, nssv1026185, nssv1026119, nssv1026145, nssv1026137, nssv1026178, nssv1026123, nssv1026138, nssv1026122, nssv1026101
Samples
Known GenesFBXL7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597275
Frequency
Sample Size17421
Observed Gain0
Observed Loss96
Observed Complex0
Frequencyn/a


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