A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557368



Internal ID16344777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:9402779..9506145hg38UCSC Ensembl
Innerchr12:9555375..9658741hg19UCSC Ensembl
Innerchr12:9446642..9550008hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38103367
hg19103367
hg18103367
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv787476
Samples
Known GenesDDX12P
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557368
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