A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv9257



Internal ID15193522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:154180197..154324589hg38UCSC Ensembl
OuterchrX:153445685..153552935hg19UCSC Ensembl
OuterchrX:153098879..153206129hg18UCSC Ensembl
OuterchrX:152966532..153073782hg17UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg38144393
hg19107251
hg18107251
hg17107251
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv7161
Supporting Variants
SamplesNA18517
Known GenesOPN1MW, OPN1MW2, TEX28, TKTL1
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)nssv9257
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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