A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1657112



Internal ID15483296
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 Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv441786
Supporting Variants
SamplesNA18940
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)nssv1657112
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer