A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv607725



Internal ID16048448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:87203287..87911933hg38UCSC Ensembl
Innerchr7:86832603..87541248hg19UCSC Ensembl
Innerchr7:86670539..87379184hg18UCSC Ensembl
Cytoband7q21.12
Allele length
AssemblyAllele length
hg38708647
hg19708646
hg18708646
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1155353
Samples1780854357_A
Known GenesABCB1, ABCB4, CROT, DBF4, RUNDC3B, SLC25A40, TMEM243, TP53TG1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv607725
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