A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006347



Internal ID18748878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:64839511..64850546hg38UCSC Ensembl
Innerchr1:65305194..65316229hg19UCSC Ensembl
Innerchr1:65077782..65088817hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3811036
hg1911036
hg1811036
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3470909, nssv3477707
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)nsv1006347
Frequency
Sample Size29084
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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