A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557220



Internal ID16344629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:6134991..6149268hg38UCSC Ensembl
Innerchr12:6244157..6258434hg19UCSC Ensembl
Innerchr12:6114418..6128695hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3814278
hg1914278
hg1814278
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2313n54
Supporting Variantsnssv787111
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557220
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