A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv11228



Internal ID15539351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:147262855..147285365hg38UCSC Ensembl
OuterchrX:146344373..146366883hg19UCSC Ensembl
OuterchrX:146152065..146174575hg18UCSC Ensembl
OuterchrX:146049919..146072429hg17UCSC Ensembl
CytobandXq27.3
Allele length
AssemblyAllele length
hg389197
hg199197
hg189197
hg179197
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv7138
Supporting Variants
SamplesNA15510
Known GenesMIR510, MIR514A1, MIR514A2, MIR514A3
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)nssv11228
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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