A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001000



Internal ID18743531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:174975071..175009717hg38UCSC Ensembl
Innerchr1:174944208..174978853hg19UCSC Ensembl
Innerchr1:173210831..173245476hg18UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg3834647
hg1934646
hg1834646
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3704820
Samples
Known GenesCACYBP, RABGAP1L
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1001000
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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