A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1420053



Internal ID16061327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:36349300..36356469hg38UCSC Ensembl
Innerchr19:36840202..36847371hg19UCSC Ensembl
Innerchr19:41532042..41539211hg18UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg387170
hg197170
hg187170
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv821399
Supporting Variants
SamplesNA10851
Known GenesZFP14
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)nssv1420053
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