A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1045392



Internal ID19134611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:19321836..19423521hg38UCSC Ensembl
Innerchr12:19474770..19576455hg19UCSC Ensembl
Innerchr12:19366037..19467722hg18UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg38101686
hg19101686
hg18101686
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1399n100
Supporting Variantsnssv3522236, nssv3504145, nssv3710316, nssv3511378, nssv3508480, nssv3710314, nssv3506848, nssv3509296, nssv3511453, nssv3507558, nssv3710299, nssv3508493, nssv3710322, nssv3504677, nssv3710310, nssv3520498, nssv3507427, nssv3515272, nssv3514053, nssv3506120, nssv3513618, nssv3710301, nssv3516700, nssv3710308, nssv3710311, nssv3512274, nssv3514571, nssv3521700, nssv3710306, nssv3518740, nssv3517832, nssv3519067, nssv3710321, nssv3710302, nssv3710320, nssv3508405, nssv3510293, nssv3710315, nssv3515360, nssv3516421, nssv3710303, nssv3710317, nssv3520869, nssv3509163, nssv3710304, nssv3520862, nssv3513381, nssv3710313, nssv3508452, nssv3505737, nssv3510070, nssv3710309, nssv3521092, nssv3710300, nssv3512006, nssv3512346, nssv3512374, nssv3512379, nssv3519776, nssv3513573, nssv3710318, nssv3710312, nssv3710307, nssv3710305, nssv3520777, nssv3517252, nssv3710319, nssv3503519, nssv3510554, nssv3507365
Samples
Known GenesPLEKHA5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1045392
Frequency
Sample Size11257
Observed Gain70
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer