A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003591



Internal ID19092809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:52988839..53005088hg38UCSC Ensembl
Innerchr3:53022855..53039104hg19UCSC Ensembl
Innerchr3:52997895..53014144hg18UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg3816250
hg1916250
hg1816250
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4740n100
Supporting Variantsnssv3595281, nssv3595280
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)nsv1003591
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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