A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv997810



Internal ID19157347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:45106843..45124910hg38UCSC Ensembl
Innerchr2:45333982..45352049hg19UCSC Ensembl
Innerchr2:45187486..45205553hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3818068
hg1918068
hg1818068
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3803n100
Supporting Variantsnssv3581609, nssv3581610
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)nsv997810
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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