A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999427



Internal ID19158964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:52988839..53007857hg38UCSC Ensembl
Innerchr3:53022855..53041873hg19UCSC Ensembl
Innerchr3:52997895..53016913hg18UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg3819019
hg1919019
hg1819019
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3595282
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)nsv999427
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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