A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003247



Internal ID18745778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:183277998..186056890hg38UCSC Ensembl
Innerchr2:184142726..186921617hg19UCSC Ensembl
Innerchr2:183850971..186629862hg18UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg382778893
hg192778892
hg182778892
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4114n100
Supporting Variantsnssv3583134
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)nsv1003247
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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