A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1007357



Internal ID19096576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:146085671..146109354hg38UCSC Ensembl
Innerchr2:146843239..146866922hg19UCSC Ensembl
Innerchr2:146559709..146583392hg18UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg3823684
hg1923684
hg1823684
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4087n100
Supporting Variantsnssv3582827, nssv3582826, nssv3582825
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)nsv1007357
Frequency
Sample Size11257
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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