A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1011420



Internal ID19100637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:91426526..91661264hg38UCSC Ensembl
Innerchr2:91618895..91849290hg19UCSC Ensembl
Innerchr2:90982622..91213017hg18UCSC Ensembl
Cytoband2p11.1
Allele length
AssemblyAllele length
hg38234739
hg19230396
hg18230396
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3991n100
Supporting Variantsnssv3579432, nssv3579435, nssv3579436, nssv3579433, nssv3579434, nssv3579437
Samples
Known GenesLOC654342
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1011420
Frequency
Sample Size11257
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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