A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3087n100



Internal ID22789174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:4391668..4459140hg38UCSC Ensembl
chr17:4294963..4362435hg19UCSC Ensembl
chr17:4241712..4309184hg18UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3867473
hg1967473
hg1867473
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1056932, nsv1065535, nsv1059309
Samples
Known GenesSPNS3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3087n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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