A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998127



Internal ID18810977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:66038974..66069548hg38UCSC Ensembl
Innerchr1:66504657..66535231hg19UCSC Ensembl
Innerchr1:66277245..66307819hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3830575
hg1930575
hg1830575
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3465891
Samples
Known GenesPDE4B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv998127
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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