A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1051913



Internal ID18794444
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:29588743..29617874hg38UCSC Ensembl
Innerchr12:29741676..29770807hg19UCSC Ensembl
Innerchr12:29632943..29662074hg18UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg3829132
hg1929132
hg1829132
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3521861
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)nsv1051913
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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