A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442128



Internal ID15500847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:2148837..2150663hg38UCSC Ensembl
Innerchr9:2148837..2150663hg19UCSC Ensembl
Innerchr9:2138837..2140663hg18UCSC Ensembl
Innerchr9:2138837..2140663hg17UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg381827
hg191827
hg181827
hg171827
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1658772, nssv1658768, nssv1658769, nssv1658770, nssv1658771
SamplesNA10847, NA12056, NA12239, NA07345, NA07348
Known GenesSMARCA2
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)nsv442128
Frequency
Sample Size270
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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