A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1053629



Internal ID18796160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:29527230..29673693hg38UCSC Ensembl
Innerchr12:29680163..29826626hg19UCSC Ensembl
Innerchr12:29571430..29717893hg18UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg38146464
hg19146464
hg18146464
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3710339
Samples
Known GenesTMTC1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1053629
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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