A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3483811



Internal ID19071452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:183251802..183301719hg38UCSC Ensembl
Innerchr1:183220937..183270854hg19UCSC Ensembl
Innerchr1:181487560..181537477hg18UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg3849918
hg1949918
hg1849918
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv999841
Supporting Variants
Samples
Known GenesNMNAT2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3483811
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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