A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1029234



Internal ID19118453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:5065360..5081754hg38UCSC Ensembl
Innerchr9:5065360..5081754hg19UCSC Ensembl
Innerchr9:5055360..5071754hg18UCSC Ensembl
Cytoband9p24.1
Allele length
AssemblyAllele length
hg3816395
hg1916395
hg1816395
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7383n100
Supporting Variantsnssv3692401, nssv3692399, nssv3692400
Samples
Known GenesJAK2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1029234
Frequency
Sample Size11257
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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