A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv820574



Internal ID16062710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:60334744..60336779hg38UCSC Ensembl
Innerchr17:58412105..58414140hg19UCSC Ensembl
Innerchr17:55766887..55768922hg18UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg382036
hg192036
hg182036
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1419954
SamplesNA10851
Known GenesUSP32
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)nsv820574
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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