A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511991



Internal ID15851416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:132984020..132986686hg38UCSC Ensembl
Outerchr7:132668780..132671446hg19UCSC Ensembl
Outerchr7:132319320..132321986hg18UCSC Ensembl
Cytoband7q32.3
Allele length
AssemblyAllele length
hg382667
hg192667
hg182667
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv624536
Samples1
Known GenesCHCHD3
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv511991
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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