A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1011850



Internal ID18754385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:183277998..186055545hg38UCSC Ensembl
Innerchr2:184142726..186920272hg19UCSC Ensembl
Innerchr2:183850971..186628517hg18UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg382777548
hg192777547
hg182777547
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4114n100
Supporting Variantsnssv3583133
Samples
Known GenesFSIP2, ZNF804A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1011850
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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