A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012200



Internal ID18754736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:109684109..109700319hg38UCSC Ensembl
Innerchr1:110226731..110242941hg19UCSC Ensembl
Innerchr1:110028254..110044464hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3816211
hg1916211
hg1816211
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv269n100
Supporting Variantsnssv3487878, nssv3497202, nssv3483374, nssv3500345, nssv3488326, nssv3498099, nssv3487818, nssv3484377, nssv3497137, nssv3492944, nssv3485081, nssv3701902, nssv3492929, nssv3701907, nssv3501233, nssv3484296, nssv3501142, nssv3489481, nssv3496480, nssv3701911, nssv3701908, nssv3701901, nssv3486966, nssv3495920, nssv3492871, nssv3488315, nssv3701903, nssv3496889, nssv3494180, nssv3499696, nssv3499516, nssv3483162, nssv3501694, nssv3701899, nssv3701906, nssv3489068, nssv3493567, nssv3489582, nssv3489638, nssv3487770, nssv3486328, nssv3701898, nssv3500955, nssv3490201, nssv3484244, nssv3487475, nssv3496236, nssv3494197, nssv3486387, nssv3487600, nssv3501111, nssv3489156, nssv3488815, nssv3486150, nssv3701910, nssv3701900, nssv3701909, nssv3701904, nssv3490828, nssv3491662, nssv3498018, nssv3485532, nssv3496781, nssv3484626, nssv3500211, nssv3487663, nssv3701905, nssv3500579
Samples
Known GenesGSTM1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1012200
Frequency
Sample Size29084
Observed Gain20
Observed Loss48
Observed Complex0
Frequencyn/a


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