A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1044304



Internal ID18786835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:93219056..93419239hg38UCSC Ensembl
Innerchr12:93612832..93813015hg19UCSC Ensembl
Innerchr12:92136963..92337146hg18UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg38200184
hg19200184
hg18200184
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3524826
Samples
Known GenesLOC643339, NUDT4, NUDT4P1, NUDT4P2, UBE2N
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1044304
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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