A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557927



Internal ID15998650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:29691593..29693084hg38UCSC Ensembl
Innerchr12:29844526..29846017hg19UCSC Ensembl
Innerchr12:29735793..29737284hg18UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg381492
hg191492
hg181492
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2446n54
Supporting Variantsnssv790553, nssv790547, nssv790550, nssv790544, nssv790548, nssv790551, nssv790543, nssv790545, nssv790542, nssv790549, nssv790546, nssv790552
Samples
Known GenesTMTC1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557927
Frequency
Sample Size17421
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer