A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002979



Internal ID19092196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:89972316..90228225hg38UCSC Ensembl
Innerchr2:90011126..90267091hg19UCSC Ensembl
Innerchr2:89648427..89904396hg18UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38255910
hg19255966
hg18255970
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3976n100
Supporting Variantsnssv3580650, nssv3580636, nssv3580633, nssv3580667, nssv3729082, nssv3580649, nssv3580638, nssv3729084, nssv3580640, nssv3581249, nssv3580655, nssv3729086, nssv3729081, nssv3729083, nssv3580660, nssv3580662, nssv3580646, nssv3580644, nssv3581253, nssv3581250, nssv3580665, nssv3581256, nssv3580654, nssv3580658, nssv3580648, nssv3580642, nssv3580669, nssv3581255, nssv3580647, nssv3581258, nssv3580666, nssv3581254, nssv3580634, nssv3729085, nssv3580637, nssv3581257, nssv3581259, nssv3581260, nssv3581251, nssv3580651, nssv3580668, nssv3580653, nssv3580663, nssv3729080, nssv3581252, nssv3580657, nssv3580635, nssv3580641, nssv3580652, nssv3580643, nssv3580664, nssv3580645, nssv3580656, nssv3580661, nssv3580639, nssv3580659
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1002979
Frequency
Sample Size11257
Observed Gain1
Observed Loss55
Observed Complex0
Frequencyn/a


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