A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7002



Internal ID15551968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:98295387..98323701hg38UCSC Ensembl
OuterchrX:97550385..97578699hg19UCSC Ensembl
OuterchrX:97437041..97465355hg18UCSC Ensembl
OuterchrX:97356530..97384844hg17UCSC Ensembl
CytobandXq21.33
Allele length
AssemblyAllele length
hg3811189
hg1911189
hg1811189
hg1711189
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10722
SamplesNA18956
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)nsv7002
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