A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4008995



Internal ID22070626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:29721175..29725960hg38UCSC Ensembl
Outerchr12:29720116..29729384hg38UCSC Ensembl
Innerchr12:29874108..29878893hg19UCSC Ensembl
Outerchr12:29873049..29882317hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg389269
hg199269
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1154820
Supporting Variants
Samples
Known GenesTMTC1
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nssv4008995
Frequency
Sample Size131
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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