A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040280



Internal ID18782811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:89202275..89219336hg38UCSC Ensembl
Innerchr10:90962032..90979093hg19UCSC Ensembl
Innerchr10:90952012..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 Variantsdgv951n100
Supporting Variantsnssv3511901
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)nsv1040280
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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