A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1042430



Internal ID18784961
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:53799130..53821891hg38UCSC Ensembl
Innerchr10:55558890..55581651hg19UCSC Ensembl
Innerchr10:55228896..55251657hg18UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg3822762
hg1922762
hg1822762
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv861n100
Supporting Variantsnssv3517656, nssv3706910, nssv3506217, nssv3510543, nssv3512497
Samples
Known GenesPCDH15
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1042430
Frequency
Sample Size29084
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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