A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003470



Internal ID19092688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:68494353..68581076hg38UCSC Ensembl
Innerchr2:68721485..68808208hg19UCSC Ensembl
Innerchr2:68574989..68661712hg18UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg3886724
hg1986724
hg1886724
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3577282
Samples
Known GenesAPLF
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1003470
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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