A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv441786



Internal ID15500505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:135435209..135474981hg38UCSC Ensembl
Innerchr2:136192779..136232551hg19UCSC Ensembl
Innerchr2:135909249..135949021hg18UCSC Ensembl
Innerchr2:136026511..136066283hg17UCSC Ensembl
Cytoband2q21.3
Allele length
AssemblyAllele length
hg3839773
hg1939773
hg1839773
hg1739773
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1657114, nssv1657115, nssv1657112, nssv1657113, nssv1657116
SamplesNA18940, NA18960, NA18974, NA19003, NA18961
Known GenesZRANB3
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)nsv441786
Frequency
Sample Size270
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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