A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999101



Internal ID18811951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:151793297..151825513hg38UCSC Ensembl
Innerchr3:151511085..151543301hg19UCSC Ensembl
Innerchr3:152993775..153025991hg18UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg3832217
hg1932217
hg1832217
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4921n100
Supporting Variantsnssv3606262, nssv3606227, nssv3606265, nssv3606217, nssv3606218, nssv3606213, nssv3606259, nssv3606250, nssv3606270, nssv3741516, nssv3606210, nssv3606255, nssv3606197, nssv3741522, nssv3606193, nssv3606200, nssv3741518, nssv3606234, nssv3606240, nssv3741504, nssv3606260, nssv3606220, nssv3606269, nssv3741507, nssv3606233, nssv3606257, nssv3741514, nssv3741513, nssv3606248, nssv3606202, nssv3606203, nssv3741508, nssv3606272, nssv3741506, nssv3606195, nssv3606226, nssv3606215, nssv3741520, nssv3606249, nssv3606264, nssv3606253, nssv3606271, nssv3606239, nssv3606252, nssv3606231, nssv3606224, nssv3606251, nssv3606263, nssv3606238, nssv3606235, nssv3741505, nssv3606207, nssv3606243, nssv3606261, nssv3606256, nssv3606236, nssv3606206, nssv3606228, nssv3741509, nssv3606246, nssv3606266, nssv3606222, nssv3606245, nssv3606223, nssv3606208, nssv3606242, nssv3606229, nssv3606209, nssv3606194, nssv3606205, nssv3606216, nssv3741510, nssv3741515, nssv3606237, nssv3606199, nssv3606230, nssv3606267, nssv3741517, nssv3606211, nssv3741512, nssv3606221, nssv3606196, nssv3606192, nssv3606268, nssv3606241, nssv3606212, nssv3741519, nssv3606232, nssv3606201, nssv3741511, nssv3606247, nssv3606204, nssv3606258, nssv3606225, nssv3606244, nssv3606198, nssv3741521, nssv3606214, nssv3606254, nssv3606219
Samples
Known GenesAADAC, MIR548H2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv999101
Frequency
Sample Size29084
Observed Gain0
Observed Loss100
Observed Complex0
Frequencyn/a


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