A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558045



Internal ID16345454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31113353..31256645hg38UCSC Ensembl
Innerchr12:31266287..31409579hg19UCSC Ensembl
Innerchr12:31157554..31300846hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38143293
hg19143293
hg18143293
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2464n54
Supporting Variantsnssv791571, nssv1176269, nssv791568, nssv791569, nssv791566, nssv1176276, nssv1176268, nssv1176277, nssv1176279, nssv1176273, nssv791567, nssv1176275, nssv1176272, nssv1176270, nssv1176271, nssv1176274, nssv1176278, nssv791570
Samples1798860552_A, 1780862312_A, 1780854231_A, 1780854446_A, HGDP00698, 1782681277_A, NINDS_256, 1780854279_A, HGDP00539, NINDS_178, NINDS_76, 1780854362_A
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558045
Frequency
Sample Size17421
Observed Gain18
Observed Loss0
Observed Complex0
Frequencyn/a


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