A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv624400



Internal ID15847936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:181134367..181134651hg38UCSC Ensembl
Outerchr3:181115753..181134923hg38UCSC Ensembl
Innerchr3:180852155..180852439hg19UCSC Ensembl
Outerchr3:180833541..180852711hg19UCSC Ensembl
Innerchr3:182334849..182335133hg18UCSC Ensembl
Outerchr3:182316235..182335405hg18UCSC Ensembl
Cytoband3q26.33
Allele length
AssemblyAllele length
hg3819171
hg1919171
hg1819171
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv511225
Supporting Variants
Samples1
Known GenesSOX2-OT
MethodSNP array
AnalysisAnalysis of HGMDFN090 by Illumina HumanOmni1 Quad SNP array
PlatformGPL8882
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nssv624400
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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