A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040628



Internal ID19129847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:39786596..39850199hg38UCSC Ensembl
Innerchr12:40180398..40244001hg19UCSC Ensembl
Innerchr12:38466665..38530268hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3863604
hg1963604
hg1863604
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1489n100
Supporting Variantsnssv3523100
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)nsv1040628
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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