A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612231



Internal ID16052954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:129855966..130120346hg38UCSC Ensembl
Innerchr8:130868212..131132592hg19UCSC Ensembl
Innerchr8:130937394..131201774hg18UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg38264381
hg19264381
hg18264381
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1121157
Samples
Known GenesASAP1, ASAP1-IT2, FAM49B, MIR5194
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612231
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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