A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1043649



Internal ID19132868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:70043883..70181697hg38UCSC Ensembl
Innerchr12:70437663..70575477hg19UCSC Ensembl
Innerchr12:68723930..68861744hg18UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg38137815
hg19137815
hg18137815
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1524n100
Supporting Variantsnssv3524607
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)nsv1043649
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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