A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv441752



Internal ID15153785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:38728720..38745139hg38UCSC Ensembl
Innerchr2:38955862..38972281hg19UCSC Ensembl
Innerchr2:38809366..38825785hg18UCSC Ensembl
Innerchr2:38867513..38883932hg17UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg3816420
hg1916420
hg1816420
hg1716420
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1656957, nssv1656962, nssv1656964, nssv1656965, nssv1656961, nssv1656959, nssv1656958, nssv1656956, nssv1656963, nssv1656960
SamplesNA10851, NA07029, NA12812, NA10839, NA07022, NA12249, NA12056, NA12763, NA06994, NA07000
Known GenesGALM, SRSF7
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)nsv441752
Frequency
Sample Size270
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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