A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002292



Internal ID19091509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:93800622..94017370hg38UCSC Ensembl
Innerchr3:93519466..93736214hg19UCSC Ensembl
Innerchr3:95002156..95218904hg18UCSC Ensembl
Cytoband3q11.1
Allele length
AssemblyAllele length
hg38216749
hg19216749
hg18216749
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4814n100
Supporting Variantsnssv3603299
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)nsv1002292
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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