A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057826



Internal ID18800357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:80173163..80257174hg38UCSC Ensembl
Innerchr18:77931046..78015057hg19UCSC Ensembl
Innerchr18:76032037..76116029hg18UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg3884012
hg1984012
hg1883993
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3415n100
Supporting Variantsnssv3563092, nssv3563099, nssv3563093, nssv3563094, nssv3563097, nssv3563098, nssv3563095, nssv3563096
Samples
Known GenesPARD6G, PARD6G-AS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1057826
Frequency
Sample Size29084
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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