A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517383



Internal ID15097990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:27495478..27501613hg38UCSC Ensembl
Innerchr12:27648411..27654546hg19UCSC Ensembl
Innerchr12:27539678..27545813hg18UCSC Ensembl
Innerchr12:27539678..27545813hg17UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg386136
hg196136
hg186136
hg176136
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv667083, nssv682461, nssv664378, nssv679943, nssv658872, nssv674927, nssv687862, nssv669742, nssv688256, nssv656669, nssv664974, nssv671700, nssv684393, nssv686703, nssv667720, nssv654774, nssv658929, nssv656391, nssv651863, nssv683916, nssv662193, nssv675499, nssv685415, nssv693030, nssv676075, nssv689746, nssv652454, nssv663440, nssv655899, nssv676926, nssv680123, nssv676317
Samples
Known GenesSMCO2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517383
Frequency
Sample Size2026
Observed Gain0
Observed Loss32
Observed Complex0
Frequencyn/a


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