A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004183



Internal ID18746714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:230309705..230393888hg38UCSC Ensembl
Innerchr2:231174420..231258603hg19UCSC Ensembl
Innerchr2:230882664..230966847hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3884184
hg1984184
hg1884184
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4180n100
Supporting Variantsnssv3586863
Samples
Known GenesSP140, SP140L
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1004183
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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