A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546816



Internal ID15987539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:91766554..91767723hg38UCSC Ensembl
Innerchr1:92232111..92233280hg19UCSC Ensembl
Innerchr1:92004699..92005868hg18UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg381170
hg191170
hg181170
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv367n54
Supporting Variantsnssv719286, nssv719152, nssv719240, nssv719170, nssv719257, nssv719176, nssv719178, nssv719212, nssv719213, nssv719215, nssv719194, nssv719281, nssv719130, nssv719254, nssv719202, nssv719211, nssv719242, nssv719274, nssv719288, nssv719227, nssv719231, nssv719275, nssv719127, nssv719230, nssv719261, nssv719237, nssv719208, nssv719147, nssv719214, nssv719150, nssv719172, nssv719149, nssv719186, nssv719161, nssv719163, nssv719157, nssv719205, nssv719248, nssv719144, nssv719164, nssv719289, nssv719239, nssv719140, nssv719291, nssv719171, nssv719244, nssv719139, nssv719134, nssv719222, nssv719270, nssv719221, nssv719265, nssv719226, nssv719260, nssv719235, nssv719284, nssv719196, nssv719256, nssv719129, nssv719236, nssv719184, nssv719189, nssv719135, nssv719225, nssv719266, nssv719148, nssv719126, nssv719264, nssv719183, nssv719271, nssv719199, nssv719267, nssv719273, nssv719282, nssv719137, nssv719133, nssv719209, nssv719142, nssv719245, nssv719247, nssv719268, nssv719159, nssv719197, nssv719223, nssv719279, nssv719185, nssv719219, nssv719203, nssv719294, nssv719243, nssv719277, nssv719283, nssv719263, nssv719276, nssv719160, nssv719191, nssv719158, nssv719204, nssv719136, nssv719131, nssv719278, nssv719251, nssv719207, nssv719132, nssv719182, nssv719253, nssv719162, nssv719296, nssv719200, nssv719168, nssv719173, nssv719233, nssv719180, nssv719151, nssv719154, nssv719269, nssv719175, nssv719293, nssv719138, nssv719241, nssv719145, nssv719155, nssv719238, nssv719141, nssv719216, nssv719220, nssv719143, nssv719290, nssv719190, nssv719287, nssv719177, nssv719198, nssv719246, nssv719255, nssv719206, nssv719232, nssv719234, nssv719153, nssv719165, nssv719280, nssv719201, nssv719195, nssv719128, nssv719292, nssv719181, nssv719218, nssv719217, nssv719174, nssv719249, nssv719167, nssv719156, nssv719187, nssv719146, nssv719188, nssv719192, nssv719250, nssv719272, nssv719169, nssv719229, nssv719295, nssv719259, nssv719193, nssv719166, nssv719262, nssv719285, nssv719224, nssv719179, nssv719210, nssv719228, nssv719252, nssv719258
Samples
Known GenesTGFBR3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546816
Frequency
Sample Size17421
Observed Gain0
Observed Loss171
Observed Complex0
Frequencyn/a


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