A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002094



Internal ID18744625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:192998950..193114915hg38UCSC Ensembl
Innerchr1:192968080..193084045hg19UCSC Ensembl
Innerchr1:191234703..191350668hg18UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg38115966
hg19115966
hg18115966
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv498n100
Supporting Variantsnssv3704871
Samples
Known GenesGLRX2, TROVE2, UCHL5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1002094
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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