A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1011697



Internal ID18754231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:64845579..64869762hg38UCSC Ensembl
Innerchr1:65311262..65335445hg19UCSC Ensembl
Innerchr1:65083850..65108033hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3824184
hg1924184
hg1824184
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv172n100
Supporting Variantsnssv3473619, nssv3481559
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)nsv1011697
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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