A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3583133



Internal ID18534728
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 StatusS
Merged Variantsnsv1011850
Supporting Variants
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)nssv3583133
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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