A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1007597



Internal ID18750128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:158905016..158964511hg38UCSC Ensembl
Innerchr1:158874806..158934301hg19UCSC Ensembl
Innerchr1:157141430..157200925hg18UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg3859496
hg1959496
hg1859496
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3704745
Samples
Known GenesPYHIN1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1007597
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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