A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442192



Internal ID15154225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:72102390..72106143hg38UCSC Ensembl
Innerchr10:73862148..73865901hg19UCSC Ensembl
Innerchr10:73532154..73535907hg18UCSC Ensembl
Innerchr10:73532154..73535907hg17UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg383754
hg193754
hg183754
hg173754
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1659098, nssv1659100, nssv1659099
SamplesNA19207, NA19209, NA19211
Known GenesASCC1
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)nsv442192
Frequency
Sample Size270
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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