A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv513629



Internal ID15506365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:152182709..152182807hg38UCSC Ensembl
OuterchrX:151351181..151351279hg19UCSC Ensembl
OuterchrX:151101837..151101935hg18UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg38931
hg19931
hg18931
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626881
Samples1
Known GenesGABRA3
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv513629
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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