A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559395



Internal ID16346804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:74182279..74282601hg38UCSC Ensembl
Innerchr12:74576059..74676381hg19UCSC Ensembl
Innerchr12:72862326..72962648hg18UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg38100323
hg19100323
hg18100323
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2716n54
Supporting Variantsnssv798834
Samples
Known GenesLOC100507377
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559395
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