A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1049313



Internal ID18791844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:5126696..5284878hg38UCSC Ensembl
Innerchr12:5235862..5394044hg19UCSC Ensembl
Innerchr12:5106123..5264305hg18UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg38158183
hg19158183
hg18158183
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1347n100
Supporting Variantsnssv3515849
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1049313
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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