A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1009252



Internal ID18751783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:45185781..45747404hg38UCSC Ensembl
Innerchr2:45412920..45974543hg19UCSC Ensembl
Innerchr2:45266424..45828047hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38561624
hg19561624
hg18561624
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3804n100
Supporting Variantsnssv3581618
Samples
Known GenesLINC01121, PRKCE, SRBD1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1009252
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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