A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv513606



Internal ID15506342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:48964780..48966402hg38UCSC Ensembl
OuterchrX:48822041..48822809hg19UCSC Ensembl
OuterchrX:48706985..48707753hg18UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg38920
hg19920
hg18920
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626858
Samples1
Known GenesKCND1
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv513606
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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