A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516696



Internal ID15443989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:17721281..17724191hg38UCSC Ensembl
Innerchr8:17578790..17581700hg19UCSC Ensembl
Innerchr8:17623070..17625980hg18UCSC Ensembl
Innerchr8:17623070..17625980hg17UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg382911
hg192911
hg182911
hg172911
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv654367, nssv666268, nssv658745, nssv685954, nssv655743, nssv657867, nssv689443, nssv685933, nssv687063, nssv679914, nssv684741, nssv682973, nssv659105, nssv693537, nssv691707, nssv693303, nssv691545, nssv690906, nssv679789, nssv670442, nssv692161, nssv689639, nssv680270, nssv691199, nssv656625, nssv672689, nssv692229, nssv688649, nssv659695, nssv683548, nssv691530, nssv664491, nssv655927, nssv688095, nssv664374, nssv688710, nssv670974, nssv681660, nssv678362, nssv660876, nssv656940, nssv659566, nssv653375, nssv675613, nssv680217, nssv684175, nssv683094, nssv672647, nssv654145, nssv675841, nssv681961, nssv674598, nssv658583, nssv675589, nssv687680, nssv684810, nssv677665, nssv680607, nssv684431, nssv660295, nssv668364, nssv665028, nssv681727, nssv677485, nssv673742, nssv673358, nssv654350, nssv688116, nssv674244, nssv689617, nssv680253, nssv675323, nssv665087, nssv677826, nssv674226, nssv669586, nssv685277, nssv678544, nssv690988, nssv663869, nssv675533, nssv674799
Samples
Known GenesMTUS1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516696
Frequency
Sample Size2026
Observed Gain0
Observed Loss82
Observed Complex0
Frequencyn/a


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