A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3117717



Internal ID21300983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:39375671..39528445hg38UCSC Ensembl
Innerchr8:39233190..39385964hg19UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38152775
hg19152775
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1171n145
Supporting Variantsnssv14087233, nssv14086109, nssv14088310, nssv14086129, nssv14085281, nssv14086052, nssv14088209, nssv14087486, nssv14086220, nssv14085201, nssv14086935, nssv14087239, nssv14088363, nssv14086153, nssv14087281, nssv14087311, nssv14085350, nssv14085312, nssv14087106, nssv14088173, nssv14088298, nssv14086162, nssv14085835, nssv14086209, nssv14086266, nssv14085771, nssv14088275, nssv14086001, nssv14085942, nssv14086046, nssv14087022, nssv14085240, nssv14087061, nssv14087507, nssv14088221, nssv14085902, nssv14086262, nssv14085219, nssv14087071, nssv14088189, nssv14086018, nssv14087492, nssv14087450, nssv14087317, nssv14086969, nssv14088233, nssv14087480, nssv14085248, nssv14085975, nssv14087169, nssv14086145, nssv14085929, nssv14085227, nssv14086080, nssv14088344, nssv14085934, nssv14086041, nssv14087048, nssv14086289, nssv14087189
Samplessample379, sample133, sample373, sample203, sample382, sample346, sample182, sample266, sample222, sample170, sample9, sample402, sample82, sample404, sample232, sample358, sample202, sample348, sample143, sample71, sample206, sample59, sample216, sample31, sample345, sample416, sample235, sample153, sample300, sample56, sample299, sample55, sample339, sample395, sample290, sample276, sample385, sample418, sample233, sample137, sample102, sample227, sample148, sample253, sample68, sample192, sample197, sample117, sample47, sample368, sample97, sample278, sample107, sample250, sample275, sample155, sample268, sample163, sample110, sample150
Known GenesADAM3A, ADAM5
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3117717
Frequency
Sample Size467
Observed Gain0
Observed Loss60
Observed Complex0
Frequencyn/a


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