A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516185



Internal ID15443478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:53614945..53623245hg38UCSC Ensembl
Innerchr2:53842082..53850382hg19UCSC Ensembl
Innerchr2:53695586..53703886hg18UCSC Ensembl
Innerchr2:53753733..53762033hg17UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg388301
hg198301
hg188301
hg178301
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv655590, nssv663264, nssv661629, nssv670479, nssv665043, nssv655733, nssv666348, nssv657278, nssv665969, nssv666900, nssv661070, nssv666002, nssv671942, nssv666924, nssv680150, nssv691909, nssv692380, nssv654429, nssv679471, nssv675795, nssv664655, nssv686717, nssv687295, nssv677242, nssv659073, nssv660737, nssv672319, nssv661325, nssv670371, nssv668556, nssv654447, nssv673791, nssv655692, nssv701772, nssv677130, nssv691483, nssv686555, nssv663481, nssv652627, nssv686250, nssv681782, nssv656974, nssv663703, nssv673873, nssv652597, nssv693411, nssv657591, nssv680915, nssv692547, nssv680267, nssv670654, nssv663217, nssv667976, nssv685846, nssv685296, nssv674310, nssv675229, nssv657321, nssv684935, nssv676933, nssv676084, nssv667066, nssv665496, nssv672868, nssv692081, nssv659401, nssv665535, nssv688997, nssv678144
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516185
Frequency
Sample Size2026
Observed Gain0
Observed Loss69
Observed Complex0
Frequencyn/a


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