A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv592642



Internal ID16033365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:178832458..178832795hg38UCSC Ensembl
Innerchr3:178550246..178550583hg19UCSC Ensembl
Innerchr3:180032940..180033277hg18UCSC Ensembl
Cytoband3q26.32
Allele length
AssemblyAllele length
hg38338
hg19338
hg18338
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8755n54
Supporting Variantsnssv982330, nssv982353, nssv982329, nssv982242, nssv982341, nssv982388, nssv982385, nssv982277, nssv982294, nssv982355, nssv982356, nssv982266, nssv982298, nssv982281, nssv982244, nssv982375, nssv982346, nssv982337, nssv982377, nssv982348, nssv982270, nssv982307, nssv982381, nssv982250, nssv982248, nssv982322, nssv982256, nssv982299, nssv982407, nssv982252, nssv982255, nssv982304, nssv982316, nssv982253, nssv982335, nssv982224, nssv982364, nssv982292, nssv982254, nssv982263, nssv982397, nssv982285, nssv982320, nssv982350, nssv982372, nssv982280, nssv982363, nssv982284, nssv982408, nssv982262, nssv982331, nssv982227, nssv982222, nssv982343, nssv982315, nssv982296, nssv982366, nssv982393, nssv982249, nssv982349, nssv982264, nssv982401, nssv982230, nssv982233, nssv982361, nssv982301, nssv982312, nssv982354, nssv982405, nssv982362, nssv982278, nssv982402, nssv982300, nssv982323, nssv982225, nssv982342, nssv982357, nssv982245, nssv982276, nssv982291, nssv982309, nssv982295, nssv982340, nssv982269, nssv982223, nssv982234, nssv982282, nssv982365, nssv982391, nssv982321, nssv982275, nssv982305, nssv982345, nssv982221, nssv982403, nssv982326, nssv982306, nssv982359, nssv982274, nssv982273, nssv982240, nssv982358, nssv982286, nssv982283, nssv982308, nssv982317, nssv982371, nssv982287, nssv982259, nssv982368, nssv982268, nssv982325, nssv982404, nssv982396, nssv982243, nssv982387, nssv982236, nssv982328, nssv982228, nssv982241, nssv982271, nssv982247, nssv982272, nssv982279, nssv982338, nssv982246, nssv982410, nssv982319, nssv982288, nssv982399, nssv982360, nssv982324, nssv982339, nssv982231, nssv982289, nssv982302, nssv982395, nssv982373, nssv982258, nssv982392, nssv982265, nssv982290, nssv982400, nssv982297, nssv982251, nssv982311, nssv982389, nssv982237, nssv982310, nssv982352, nssv982409, nssv982257, nssv982411, nssv982327, nssv982374, nssv982235, nssv982379, nssv982229, nssv982351, nssv982336, nssv982239, nssv982333, nssv982390, nssv982367, nssv982378, nssv982260, nssv982412, nssv982226, nssv982386, nssv982293, nssv982334, nssv982384, nssv982380, nssv982344, nssv982332, nssv982370, nssv982313, nssv982318, nssv982394, nssv982383, nssv982369, nssv982398, nssv982347, nssv982261, nssv982267, nssv982382, nssv982406, nssv982232, nssv982303, nssv982314, nssv982238, nssv982376
Samples
Known GenesKCNMB2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv592642
Frequency
Sample Size17421
Observed Gain0
Observed Loss192
Observed Complex0
Frequencyn/a


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