A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012527



Internal ID19101744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:42081396..42143315hg38UCSC Ensembl
Innerchr2:42308536..42370455hg19UCSC Ensembl
Innerchr2:42162040..42223959hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3861920
hg1961920
hg1861920
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3581569, nssv3725984
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)nsv1012527
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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