A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005808



Internal ID18748339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:179814787..179895575hg38UCSC Ensembl
Innerchr1:179783922..179864710hg19UCSC Ensembl
Innerchr1:178050545..178131333hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg3880789
hg1980789
hg1880789
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv473n100
Supporting Variantsnssv3501754
Samples
Known GenesFAM163A, TOR1AIP1, TOR1AIP2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1005808
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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