A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv908



Internal ID15198080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:123578617..123613783hg38UCSC Ensembl
OuterchrX:122712468..122747634hg19UCSC Ensembl
OuterchrX:122540149..122575315hg18UCSC Ensembl
OuterchrX:122438003..122473169hg17UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg385830
hg195830
hg185830
hg175830
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7069
Supporting Variants
SamplesNA19240
Known GenesTHOC2
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)nssv908
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