A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557949



Internal ID15998672
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:29691924..29692713hg38UCSC Ensembl
Innerchr12:29844857..29845646hg19UCSC Ensembl
Innerchr12:29736124..29736913hg18UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg38790
hg19790
hg18790
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv790823, nssv790819, nssv790818, nssv790820, nssv790822, nssv790821
Samples
Known GenesTMTC1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557949
Frequency
Sample Size17421
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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