A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3712457



Internal ID18664052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:44092509..44740000hg38UCSC Ensembl
Innerchr12:44486312..45133783hg19UCSC Ensembl
Innerchr12:42772579..43420050hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38647492
hg19647472
hg18647472
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1049818
Supporting Variants
Samples
Known GenesNELL2, TMEM117
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3712457
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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