A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005328



Internal ID18747859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:93800622..94025077hg38UCSC Ensembl
Innerchr3:93519466..93743921hg19UCSC Ensembl
Innerchr3:95002156..95226611hg18UCSC Ensembl
Cytoband3q11.1
Allele length
AssemblyAllele length
hg38224456
hg19224456
hg18224456
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4814n100
Supporting Variantsnssv3603301
Samples
Known GenesARL13B, PROS1, STX19
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1005328
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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