A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1011407



Internal ID18753941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:179764058..179830295hg38UCSC Ensembl
Innerchr1:179733193..179799430hg19UCSC Ensembl
Innerchr1:177999816..178066053hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg3866238
hg1966238
hg1866238
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv472n100
Supporting Variantsnssv3491179
Samples
Known GenesFAM163A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1011407
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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