A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv513762



Internal ID15853183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:8626948..8737561hg38UCSC Ensembl
OuterchrX:8594989..8705602hg19UCSC Ensembl
OuterchrX:8554989..8665602hg18UCSC Ensembl
CytobandXp22.31
Allele length
AssemblyAllele length
hg38110614
hg19110614
hg18110614
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv627014
Samples1
Known GenesKAL1
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv513762
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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