A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1007047



Internal ID18749578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:133418820..133462544hg38UCSC Ensembl
Innerchr3:133137664..133181388hg19UCSC Ensembl
Innerchr3:134620354..134664078hg18UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg3843725
hg1943725
hg1843725
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4903n100
Supporting Variantsnssv3607142, nssv3607143
Samples
Known GenesBFSP2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1007047
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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