A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514075



Internal ID15812423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:71116930..71120706hg38UCSC Ensembl
Innerchr2:71344060..71347836hg19UCSC Ensembl
Innerchr2:71197568..71201344hg18UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg383777
hg193777
hg183777
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2884775, nssv2884029, nssv2884814, nssv2884769, nssv2884788, nssv2884832, nssv2884028, nssv2884785, nssv2884833, nssv2884809, nssv2884827, nssv2884819, nssv2884795, nssv2884813, nssv2884798, nssv2884776, nssv2884792, nssv2884772, nssv2884807, nssv2884771, nssv2884787, nssv2884770, nssv2884824, nssv2884789, nssv2884783, nssv2884794, nssv2884802, nssv2884801, nssv2884812, nssv2884793, nssv2884778, nssv2884818, nssv2884799, nssv2884796, nssv2884828, nssv2884808, nssv2884768, nssv2884800, nssv2884806, nssv2884826, nssv2884811, nssv2884777, nssv2884810, nssv2884027, nssv2884816, nssv2884815, nssv2884820, nssv2884823, nssv2884782, nssv2884026, nssv2884781, nssv2884773, nssv2884825, nssv2884779, nssv2884822, nssv2884797, nssv2884780, nssv2884791, nssv2884786, nssv2884817, nssv2884803, nssv2884821, nssv2884830, nssv2884784, nssv2884774, nssv2884831, nssv2884805, nssv2884790, nssv2884804, nssv2884829
SamplesNA19237, NA19222, NA19186, NA18861, NA18508, NA18855, NA21399, NA18917, NA18486, NA18925, NA19107, NA19127, NA19192, NA19201, NA18489, NA18923, NA21401, NA19197, NA19138, NA19180, NA19137, NA19235, NA19189, NA19239, NA21442, NA18908, NA19200, NA21307, NA19210, NA19194, NA19175, NA19205, NA19236, NA18910, NA18871, NA18503, NA19202, NA19177, NA19142, NA19150, NA19151, NA18930, NA18856, NA18857, NA19101, NA18523, NA19183, NA19149, NA19147, NA18863, NA19140, NA19240, NA19144, NA18992, NA19193, NA18911, NA19182, NA18484, NA19109, NA19178, NA19185, NA18873, NA18972, NA18872, NA19224, NA19146, NA18488, NA19148, NA21440, NA18487
Known GenesMCEE
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514075
Frequency
Sample Size2366
Observed Gain0
Observed Loss70
Observed Complex0
Frequencyn/a


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