A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv821511



Internal ID16063647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16505385..16780006hg38UCSC Ensembl
Innerchr1:16831880..17106501hg19UCSC Ensembl
Innerchr1:16704467..16979088hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38274622
hg19274622
hg18274622
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1420247
SamplesNA10851
Known GenesCROCCP2, ESPNP, LOC729574, MIR3675, MST1L, MST1P2, NBPF1
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)nsv821511
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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