A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999841



Internal ID19159377
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 StatusM
Merged Variants
Supporting Variantsnssv3483811
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)nsv999841
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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