A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1659100



Internal ID15152487
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 Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv442192
Supporting Variants
SamplesNA19211
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)nssv1659100
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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