A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998496



Internal ID18811346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:843485..970603hg38UCSC Ensembl
Innerchr4:837273..964391hg19UCSC Ensembl
Innerchr4:827273..954391hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38127119
hg19127119
hg18127119
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5079n100
Supporting Variantsnssv3616100
Samples
Known GenesDGKQ, GAK, TMEM175
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv998496
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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