A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512922



Internal ID15852344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:128797687..128798398hg38UCSC Ensembl
Outerchr7:128437741..128438452hg19UCSC Ensembl
Outerchr7:128224977..128225688hg18UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg38935
hg19935
hg18935
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625570
Samples1
Known GenesCCDC136
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv512922
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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