A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1625734



Internal ID15496371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68494770..68620261hg38UCSC Ensembl
Innerchr4:69360488..69485979hg19UCSC Ensembl
Innerchr4:69043083..69168574hg18UCSC Ensembl
Innerchr4:69189254..69314745hg17UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38125492
hg19125492
hg18125492
hg17125492
Variant TypeCNV loss
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv442910
Supporting Variants
SamplesNA19172
Known GenesTMPRSS11E, UGT2B17
MethodSNP array
AnalysisWe used two computational approaches to identify CNVs: the hidden Markov model Birdseye, and an approach based on correlation between nearby probes across a population sample. To maximize the quality of reported findings, we ran duplicate experiments in independent labs, and report the CNVs that were observed in both experiments, in the same samples and at essentially identical genomic locations.
Platform[GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array
Comments
ReferenceMcCarroll_et_al_2008
Pubmed ID18776908
Accession Number(s)nssv1625734
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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