A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005570



Internal ID18748101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:45184836..45731112hg38UCSC Ensembl
Innerchr2:45411975..45958251hg19UCSC Ensembl
Innerchr2:45265479..45811755hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38546277
hg19546277
hg18546277
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3804n100
Supporting Variantsnssv3725998
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)nsv1005570
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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