A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040689



Internal ID19129908
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:129554313..129596006hg38UCSC Ensembl
Innerchr12:130038858..130080551hg19UCSC Ensembl
Innerchr12:128604811..128646504hg18UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg3841694
hg1941694
hg1841694
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3526190
Samples
Known GenesTMEM132D
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1040689
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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