A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1043312



Internal ID18785843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:27494796..27506809hg38UCSC Ensembl
Innerchr12:27647729..27659742hg19UCSC Ensembl
Innerchr12:27538996..27551009hg18UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg3812014
hg1912014
hg1812014
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1407n100
Supporting Variantsnssv3520653, nssv3513216, nssv3518911, nssv3517801, nssv3519937, nssv3504738, nssv3512212, nssv3511303, nssv3514749, nssv3519358, nssv3519878, nssv3512139, nssv3503036, nssv3505383, nssv3506352
Samples
Known GenesSMCO2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1043312
Frequency
Sample Size29084
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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