A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1420904



Internal ID16408864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:127190337..127190970hg38UCSC Ensembl
Innerchr10:128988601..128989234hg19UCSC Ensembl
Innerchr10:128878591..128879224hg18UCSC Ensembl
Cytoband10q26.2
Allele length
AssemblyAllele length
hg38634
hg19634
hg18634
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv821275
Supporting Variants
SamplesNA10851
Known GenesDOCK1, FAM196A
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)nssv1420904
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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