A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1011830



Internal ID18754365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:222673597..222979600hg38UCSC Ensembl
Innerchr2:223538316..223844318hg19UCSC Ensembl
Innerchr2:223246560..223552562hg18UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg38306004
hg19306003
hg18306003
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3729361
Samples
Known GenesACSL3, MOGAT1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1011830
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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