A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3466665



Internal ID18715199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:64838787..64862956hg38UCSC Ensembl
Innerchr1:65304470..65328639hg19UCSC Ensembl
Innerchr1:65077058..65101227hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3824170
hg1924170
hg1824170
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1006149
Supporting Variants
Samples
Known GenesJAK1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3466665
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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