A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv441771



Internal ID15500490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:101780497..101783870hg38UCSC Ensembl
Innerchr2:102396959..102400332hg19UCSC Ensembl
Innerchr2:101763391..101766764hg18UCSC Ensembl
Innerchr2:101855477..101858850hg17UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg383374
hg193374
hg183374
hg173374
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1657052, nssv1657050, nssv1657051
SamplesNA19238, NA18914, NA18913
Known GenesMAP4K4
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)nsv441771
Frequency
Sample Size270
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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