A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008483



Internal ID19097701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:99941910..100184925hg38UCSC Ensembl
Innerchr3:99660754..99903769hg19UCSC Ensembl
Innerchr3:101143444..101386459hg18UCSC Ensembl
Cytoband3q12.1
Allele length
AssemblyAllele length
hg38243016
hg19243016
hg18243016
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4829n100
Supporting Variantsnssv3735190
Samples
Known GenesCMSS1, FILIP1L, MIR3921, MIR548G
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1008483
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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