A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1042090



Internal ID19131309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:10494386..10542799hg38UCSC Ensembl
Innerchr12:10646985..10695398hg19UCSC Ensembl
Innerchr12:10538252..10586665hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3848414
hg1948414
hg1848414
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3508982
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)nsv1042090
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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