A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001083



Internal ID18743614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:222682151..222706726hg38UCSC Ensembl
Innerchr2:223546870..223571445hg19UCSC Ensembl
Innerchr2:223255114..223279689hg18UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg3824576
hg1924576
hg1824576
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3586824
Samples
Known GenesMOGAT1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1001083
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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