A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1042253



Internal ID19131472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:11340230..11414977hg38UCSC Ensembl
Innerchr12:11493164..11567911hg19UCSC Ensembl
Innerchr12:11384431..11459178hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3874748
hg1974748
hg1874748
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1380n100
Supporting Variantsnssv3512085, nssv3508962, nssv3708759, nssv3708758, nssv3708756, nssv3503565, nssv3708757, nssv3504120, nssv3522028, nssv3504687, nssv3510967
Samples
Known GenesPRB1, PRB2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1042253
Frequency
Sample Size11257
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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