A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv951n100



Internal ID20152567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:89202275..89219336hg38UCSC Ensembl
chr10:90962032..90979093hg19UCSC Ensembl
chr10:90952012..90969073hg18UCSC Ensembl
Cytoband10q23.31
Allele length
AssemblyAllele length
hg3817062
hg1917062
hg1817062
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1042428, nsv1040280
Samples
Known GenesCH25H, LIPA
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv951n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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