A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1051285



Internal ID18793816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:44054046..45582132hg38UCSC Ensembl
Innerchr12:44447849..45975915hg19UCSC Ensembl
Innerchr12:42734116..44262182hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg381528087
hg191528067
hg181528067
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3523512
Samples
Known GenesANO6, DBX2, NELL2, PLEKHA8P1, RACGAP1P, RNY5, TMEM117
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1051285
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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