A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512929



Internal ID15505665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:141336952..141337179hg38UCSC Ensembl
Outerchr7:141036752..141036979hg19UCSC Ensembl
Outerchr7:140683221..140683448hg18UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg381376
hg191376
hg181376
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625578
Samples1
Known GenesTMEM178B
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv512929
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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