A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7048



Internal ID15552018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:115726207..115728923hg38UCSC Ensembl
OuterchrX:114996053..114998810hg19UCSC Ensembl
OuterchrX:114896347..114899064hg18UCSC Ensembl
OuterchrX:114783507..114786223hg17UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg3823354
hg1923354
hg1823354
hg1723354
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10725, nssv11223, nssv5252
SamplesNA18956, NA15510, NA19129
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)nsv7048
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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