A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442475



Internal ID15501194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:56348215..56353463hg38UCSC Ensembl
Innerchr19:56859584..56864832hg19UCSC Ensembl
Innerchr19:61551396..61556644hg18UCSC Ensembl
Innerchr19:61551396..61556644hg17UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg385249
hg195249
hg185249
hg175249
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1660519, nssv1660518
SamplesNA18542, NA18620
Known Genes
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)nsv442475
Frequency
Sample Size270
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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