A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998835



Internal ID18811685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:216266330..216308893hg38UCSC Ensembl
Innerchr1:216439672..216482235hg19UCSC Ensembl
Innerchr1:214506295..214548858hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3842564
hg1942564
hg1842564
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3499484
Samples
Known GenesUSH2A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv998835
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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