A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005824



Internal ID18748355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:224926952..224971169hg38UCSC Ensembl
Innerchr1:225114654..225158871hg19UCSC Ensembl
Innerchr1:223181277..223225494hg18UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg3844218
hg1944218
hg1844218
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3501774
Samples
Known GenesDNAH14
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1005824
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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