A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1054485



Internal ID19143704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31125097..31242897hg38UCSC Ensembl
Innerchr12:31278031..31395831hg19UCSC Ensembl
Innerchr12:31169298..31287098hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38117801
hg19117801
hg18117801
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1419n100
Supporting Variantsnssv3520133, nssv3522111, nssv3516958, nssv3521247, nssv3504196, nssv3517047, nssv3521078, nssv3505224, nssv3502831, nssv3522490, nssv3509727, nssv3519453, nssv3503630, nssv3710371, nssv3508882, nssv3505500, nssv3515955, nssv3504754, nssv3710374, nssv3512089, nssv3508775, nssv3504619, nssv3504021, nssv3518916, nssv3505880, nssv3503746, nssv3519653, nssv3520427, nssv3517265, nssv3518056, nssv3506624, nssv3520301, nssv3515707, nssv3502804, nssv3515968, nssv3514426, nssv3710373, nssv3504717, nssv3710372, nssv3511150, nssv3518890, nssv3522270, nssv3511363, nssv3509861, nssv3503333, nssv3710370, nssv3516431
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1054485
Frequency
Sample Size11257
Observed Gain47
Observed Loss0
Observed Complex0
Frequencyn/a


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