A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557287



Internal ID16344696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7844294..7970710hg38UCSC Ensembl
Innerchr12:7996890..8123306hg19UCSC Ensembl
Innerchr12:7888157..8014573hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38126417
hg19126417
hg18126417
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2329n54
Supporting Variantsnssv787304, nssv1175791, nssv1175790, nssv787306, nssv1175774, nssv1175770, nssv787309, nssv787303, nssv1175783, nssv1175785, nssv1175793, nssv1175784, nssv1175782, nssv787301, nssv1175773, nssv1175786, nssv787302, nssv1175781, nssv787310, nssv1175771, nssv1175777, nssv1175778, nssv1175779, nssv1175776, nssv1175775, nssv787307, nssv1175788, nssv787305, nssv1175787, nssv1175772, nssv1175792, nssv1175780, nssv1175789, nssv1175794, nssv787308
SamplesNINDS_78, NINDS_191, HGDP00955, HGDP01350, HGDP01269, HGDP00717, HGDP01352, HGDP00514, HGDP00120, 1780862521_A, HGDP00151, 1782681023_A, HGDP00216, HGDP00898, HGDP00823, HGDP00761, NINDS_59, 1780862577_A, 1780854477_A, HGDP01018, 1780862276_A, 1780862175_A, NINDS_15, 1780862594_A, 1780854357_A
Known GenesSLC2A14, SLC2A3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557287
Frequency
Sample Size17421
Observed Gain35
Observed Loss0
Observed Complex0
Frequencyn/a


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