A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560292



Internal ID16001015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:114406398..114423013hg38UCSC Ensembl
Innerchr12:114844203..114860818hg19UCSC Ensembl
Innerchr12:113328586..113345201hg18UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg3816616
hg1916616
hg1816616
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1175893
Samples1780862433_A
Known GenesTBX5, TBX5-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560292
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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