A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv556945



Internal ID15997668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:1251714..1257148hg38UCSC Ensembl
Innerchr12:1360880..1366314hg19UCSC Ensembl
Innerchr12:1231141..1236575hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg385435
hg195435
hg185435
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv786227, nssv786226, nssv786228, nssv786229
Samples
Known GenesERC1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv556945
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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