A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002120



Internal ID18744651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:32245383..32314374hg38UCSC Ensembl
Innerchr2:32470452..32539443hg19UCSC Ensembl
Innerchr2:32323956..32392947hg18UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg3868992
hg1968992
hg1868992
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3748n100
Supporting Variantsnssv3579153
Samples
Known GenesNLRC4, YIPF4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1002120
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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