A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1618232



Internal ID15144493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103566616..103616762hg38UCSC Ensembl
Innerchr1:104109238..104159384hg19UCSC Ensembl
Innerchr1:103910761..103960907hg18UCSC Ensembl
Innerchr1:103821259..103871405hg17UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3850147
hg1950147
hg1850147
hg1750147
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv442937
Supporting Variants
SamplesNA19100
Known GenesACTG1P4, AMY2B
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)nssv1618232
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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