A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1014099



Internal ID19103319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:52988896..53005088hg38UCSC Ensembl
Innerchr3:53022912..53039104hg19UCSC Ensembl
Innerchr3:52997952..53014144hg18UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg3816193
hg1916193
hg1816193
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4740n100
Supporting Variantsnssv3595285, nssv3595286, nssv3595284
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)nsv1014099
Frequency
Sample Size11257
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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