A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1420950



Internal ID16062224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:61194479..61257898hg38UCSC Ensembl
Innerchr11:60961951..61025370hg19UCSC Ensembl
Innerchr11:60718527..60781946hg18UCSC Ensembl
Cytoband11q12.2
Allele length
AssemblyAllele length
hg3863420
hg1963420
hg1863420
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv820586
Supporting Variants
SamplesNA10851
Known GenesPGA3, PGA4, PGA5
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)nssv1420950
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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