A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005169



Internal ID18747700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:64838732..64850546hg38UCSC Ensembl
Innerchr1:65304415..65316229hg19UCSC Ensembl
Innerchr1:65077003..65088817hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3811815
hg1911815
hg1811815
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3472560
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)nsv1005169
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