A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048378



Internal ID18790909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:125205392..125218592hg38UCSC Ensembl
Innerchr11:125075288..125088488hg19UCSC Ensembl
Innerchr11:124580498..124593698hg18UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg3813201
hg1913201
hg1813201
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1292n100
Supporting Variantsnssv3502975, nssv3521932, nssv3514327, nssv3518385, nssv3512214, nssv3710763, nssv3507042, nssv3507327
Samples
Known GenesPKNOX2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1048378
Frequency
Sample Size29084
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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