A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv971798



Internal ID16265754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:123448504..123450133hg38UCSC Ensembl
Innerchr3:123167351..123168980hg19UCSC Ensembl
Innerchr3:124650041..124651670hg18UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg381630
hg191630
hg181630
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv591419
Supporting Variants
Samples
Known GenesADCY5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv971798
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer