A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998051



Internal ID19157588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:93800622..94021836hg38UCSC Ensembl
Innerchr3:93519466..93740680hg19UCSC Ensembl
Innerchr3:95002156..95223370hg18UCSC Ensembl
Cytoband3q11.1
Allele length
AssemblyAllele length
hg38221215
hg19221215
hg18221215
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4814n100
Supporting Variantsnssv3603300
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)nsv998051
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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