A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012893



Internal ID19102110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:233071718..233112463hg38UCSC Ensembl
Innerchr1:233207464..233248209hg19UCSC Ensembl
Innerchr1:231274087..231314832hg18UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg3840746
hg1940746
hg1840746
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3493884
Samples
Known GenesPCNXL2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1012893
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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