A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5252



Internal ID15543754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:115726207..115727239hg38UCSC Ensembl
OuterchrX:114997760..114998810hg19UCSC Ensembl
OuterchrX:114898038..114899064hg18UCSC Ensembl
OuterchrX:114783507..114784539hg17UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg3823768
hg1923768
hg1823768
hg1723768
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv7048
Supporting Variants
SamplesNA19129
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)nssv5252
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer