A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv513763



Internal ID15853184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:50206846..50209324hg38UCSC Ensembl
OuterchrX:49971497..49973975hg19UCSC Ensembl
OuterchrX:49858237..49860715hg18UCSC Ensembl
CytobandXp11.22
Allele length
AssemblyAllele length
hg382479
hg192479
hg182479
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv627015
Samples1
Known Genes
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv513763
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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