A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv607591



Internal ID16048314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76502756..76880902hg38UCSC Ensembl
Innerchr7:76132073..76510219hg19UCSC Ensembl
Innerchr7:75970009..76348155hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38378147
hg19378147
hg18378147
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11465n54
Supporting Variantsnssv1088030
Samples
Known GenesDTX2, LOC100133091, POMZP3, UPK3B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv607591
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