A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv997853



Internal ID19157389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:52994359..53011897hg38UCSC Ensembl
Innerchr3:53028375..53045913hg19UCSC Ensembl
Innerchr3:53003415..53020953hg18UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg3817539
hg1917539
hg1817539
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4743n100
Supporting Variantsnssv3593361, nssv3593362
Samples
Known GenesSFMBT1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv997853
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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