A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7012



Internal ID15205293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:100965059..100999697hg38UCSC Ensembl
OuterchrX:100220048..100254686hg19UCSC Ensembl
OuterchrX:100106704..100141342hg18UCSC Ensembl
OuterchrX:100026193..100060831hg17UCSC Ensembl
CytobandXq22.1
Allele length
AssemblyAllele length
hg386338
hg196338
hg186338
hg176338
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv895
SamplesNA19240
Known GenesARL13A
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nsv7012
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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