A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1650552



Internal ID15469059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:18452078..18561907hg38UCSC Ensembl
Innerchr17:18355392..18465221hg19UCSC Ensembl
Innerchr17:18296117..18405946hg18UCSC Ensembl
Innerchr17:18296117..18405946hg17UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38109830
hg19109830
hg18109830
hg17109830
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv442738
Supporting Variants
SamplesNA12864
Known GenesCCDC144B, FAM106A, LGALS9C, USP32P2
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)nssv1650552
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer