A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv11223



Internal ID15539356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:115726279..115727984hg38UCSC Ensembl
OuterchrX:114996992..114998736hg19UCSC Ensembl
OuterchrX:114897286..114898990hg18UCSC Ensembl
OuterchrX:114783579..114785284hg17UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg3823354
hg1923354
hg1823354
hg1723354
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv7048
Supporting Variants
SamplesNA15510
Known Genes
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)nssv11223
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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