A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1658772



Internal ID15465684
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 Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv442128
Supporting Variants
SamplesNA12239
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)nssv1658772
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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