A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv592058



Internal ID16379467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:151796802..151828253hg38UCSC Ensembl
Innerchr3:151514590..151546041hg19UCSC Ensembl
Innerchr3:152997280..153028731hg18UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg3831452
hg1931452
hg1831452
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8652n54
Supporting Variantsnssv976828, nssv976811, nssv976817, nssv976827, nssv976823, nssv976803, nssv976800, nssv976799, nssv976808, nssv976804, nssv976820, nssv1151802, nssv976802, nssv976806, nssv976831, nssv976832, nssv976798, nssv1151806, nssv976812, nssv976796, nssv1151804, nssv976797, nssv976815, nssv976810, nssv976813, nssv976801, nssv976824, nssv976807, nssv976809, nssv976805, nssv976830, nssv976821, nssv976816, nssv1151808, nssv976814, nssv976822, nssv976819, nssv976833, nssv976825, nssv976795, nssv976826, nssv1151807, nssv1151805, nssv976829, nssv976818, nssv1151803
Samples1780854354_A, 1798860292_A, 1780854573_A, 1798860306_A, NINDS_251, 1780854295_A, 1780854058_A
Known GenesAADAC, MIR548H2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv592058
Frequency
Sample Size17421
Observed Gain0
Observed Loss46
Observed Complex0
Frequencyn/a


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