A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv556950



Internal ID15997673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:1494262..1529702hg38UCSC Ensembl
Innerchr12:1603428..1638868hg19UCSC Ensembl
Innerchr12:1473689..1509129hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3835441
hg1935441
hg1835441
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv786285
Samples
Known GenesERC1, LINC00942
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv556950
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