A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv820429



Internal ID16062565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:49529312..49605253hg38UCSC Ensembl
InnerchrX:49293915..49369856hg19UCSC Ensembl
InnerchrX:49180859..49256800hg18UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg3875942
hg1975942
hg1875942
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1420195
SamplesNA10851
Known GenesGAGE1, GAGE12B, GAGE12C, GAGE12D, GAGE12E, GAGE12F, GAGE12G, GAGE12H, GAGE12I, GAGE2A, GAGE2C, GAGE2E, GAGE6, GAGE8
MethodSequencing
AnalysisRead-depth of sequencing coverage was calculated for each base of human reference genome assembly build 36.3 (hg18) by our own script. Influence of GC contents on the read-depth of sequencing coverage was adjusted using modified method suggested by Yoon et al. We sought the relationship between GC contents and read-depth of coverage in 100bp windows. Then the single base RD (Read depth) was adjusted by the relationship.
PlatformIllumina IIx
Comments
ReferenceJu_et_al_2010
Pubmed ID20802225
Accession Number(s)nsv820429
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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