A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1052012



Internal ID19141231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:39786596..39843980hg38UCSC Ensembl
Innerchr12:40180398..40237782hg19UCSC Ensembl
Innerchr12:38466665..38524049hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3857385
hg1957385
hg1857385
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1489n100
Supporting Variantsnssv3523099
Samples
Known GenesSLC2A13
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1052012
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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