A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1042966



Internal ID19132185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:30267250..30286396hg38UCSC Ensembl
Innerchr12:30420183..30439329hg19UCSC Ensembl
Innerchr12:30311450..30330596hg18UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg3819147
hg1919147
hg1819147
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3514617
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)nsv1042966
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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