A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998429



Internal ID18811279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:192992568..193081385hg38UCSC Ensembl
Innerchr1:192961698..193050515hg19UCSC Ensembl
Innerchr1:191228321..191317138hg18UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg3888818
hg1988818
hg1888818
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv498n100
Supporting Variantsnssv3499045
Samples
Known GenesTROVE2, UCHL5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv998429
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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