A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559806



Internal ID16000529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:94995067..95049399hg38UCSC Ensembl
Innerchr12:95388843..95443175hg19UCSC Ensembl
Innerchr12:93912974..93967306hg18UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg3854333
hg1954333
hg1854333
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv800747
Samples
Known GenesNDUFA12, NR2C1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559806
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